Materiały źródłowe

• #1 Primary Lateral Sclerosis: Background, Etiology, Epidemiology

  https://emedicine.medscape.com/article/1171782-overview

  Data on the incidence of primary lateral sclerosis (PLS) are uncertain. […] The 8 patients with PLS reported by Pringle et al in 1992 were identified over a period of 10 years among a population of 500 patients with ALS. […] Inferring a population base of approximately 4 million people from the ALS patient data (assuming these are mixed prevalence and incidence data) would result in a prevalence of 2 per million for PLS, assuming all cases were identified. […] Further assuming an average disease duration of 20 years (close to the reported median of 19 y), this prevalence would translate into an annual PLS incidence rate of 1 per 10 million (0.01 case per 100,000 population per year), which is approximately 0.5% of that for ALS. […] The tentative nature of these estimates should be emphasized.

• #2

  https://journals.lww.com/nrronline/fulltext/2024/09000/primary_lateral_sclerosis__more_than_just_an_upper.11.aspx

  Primary lateral sclerosis (PLS) has traditionally been regarded as a pure upper motor neuron condition, a view perpetuated by most medical textbooks. […] The epidemiology literature of PLS is less robust, and key variables, such as incidence, prevalence, and the average symptom onset to diagnosis interval are relatively poorly characterized. […] Given the relatively low incidence of PLS, there is an imperative for effective international collaboration, data-sharing, and protocol harmonization.

• #3 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is predominantly a disorder in men with a man-to-woman ratio between 2:1 and 4:1, which represents about 2% to 3% of patients with motor neuron disease. The incidence is estimated at 0.1 per 100,00 per year. No differences in ethnicity have been reported. Symptoms typically start around the 5th to 6th decade of life, with the mean age of symptoms around 50 years, although heterogeneity exists. Age of onset can help clinicians diagnose PLS as this is nearly a decade earlier than nonfamilial ALS and almost a decade earlier than HSP. […] PLS is a selective upper motor neuron disorder characterized by insidious onset of symptoms in the absence of lower motor neuron involvement. This condition is a diagnosis of exclusion. Therefore, other causes of upper motor neuron dysfunction, including hereditary spastic paraplegia, must be ruled out. The clinical course of PLS is typically more prolonged and benign than that of amyotrophic lateral sclerosis (ALS).

• #4 Primary Lateral Sclerosis: An Overview

  https://www.mdpi.com/2077-0383/13/2/578

  Primary lateral sclerosis (PLS) is a rare neurodegenerative disorder which causes the selective deterioration of the upper motor neurons (UMNs), sparing the lower motor neuron (LMN) system. […] The prevalence of PLS is estimated to be around 2–3% of total cases of MND. However, this data strongly depended on the population considered, since other studies sustained a higher prevalence (up to 5% of the MND population). […] The incidence is thought to be less than 0.1/100,000/year, even though the largest population-based study describing the epidemiology of PLS in Catalonia in the period of 2011–2019 and in Valencia in the period of 2013–2019 pointed out an estimated incidence ranging from 0.2 to 0.6 per 100,000 people per year (higher than expected from previous data). […] A male predominance has been consistently observed in PLS (range of 2–4:1), although other studies suggested a higher prevalence among females; no difference between races have been reported.

• #5 Primary Lateral Sclerosis | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/1688598/all/Primary_Lateral_Sclerosis?q=Myositis

  Primary lateral sclerosis (PLS) is a rare progressive degenerative disease of the corticospinal and corticobulbar tracts (upper motor neurons [UMNs]), which spares the anterior horn cells. […] Found in 13% of patients with motor neuron disorder. […] Onset is usually after age 40 years, although a juvenile form has been described. […] Mean age at symptom onset is 54 years. […] There is a slight male predominance, which is similar to ALS. […] Incidence is difficult to determine due to rarity, misdiagnosis, and changing diagnosis. An estimated 1/10 million per year or 300 to 500 people in the United States are diagnosed yearly. […] Estimated prevalence is 10 to 20 per million.

• #6

  https://link.springer.com/article/10.1007/s00415-023-11746-7

  Primary lateral sclerosis (PLS) is a motor neuron disease characterised by loss of the upper motor neurons. […] The exact incidence and prevalence of PLS are unknown, but it is estimated that they make up roughly 15% of all MND patients seen at specialized clinics. […] Current consensus criteria for PLS state that there is limited or no place for genetic testing in the work-up for PLS. […] The diagnostic yield of genetic testing for HSP and ALS genes in PLS is 7% based on our findings. […] We do believe that based on the results of Mitsumoto et al. and our cohort, genetic analyses could have a role in the diagnostic work-up of PLS and should not be limited to patients with only symmetrical involvement of the legs. […] This paper offers an in-depth genetic characterization of the largest PLS cohort to date.

• #7 Primary Lateral Sclerosis: An Overview

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10816328/

  Primary lateral sclerosis (PLS) is a rare neurodegenerative disorder which causes the selective deterioration of the upper motor neurons (UMNs), sparing the lower motor neuron (LMN) system. […] The prevalence of PLS is estimated to be around 23% of total cases of MND. However, this data strongly depended on the population considered, since other studies sustained a higher prevalence (up to 5% of the MND population). The incidence is thought to be less than 0.1/100,000/year, even though the largest population-based study describing the epidemiology of PLS in Catalonia in the period of 2011-2019 and in Valencia in the period of 2013-2019 pointed out an estimated incidence ranging from 0.2 to 0.6 per 100,000 people per year (higher than expected from previous data). […] A male predominance has been consistently observed in PLS (range of 24:1), although other studies suggested a higher prevalence among females; no difference between races have been reported.

• #8 Primary Lateral Sclerosis: An Overview

  https://www.mdpi.com/2077-0383/13/2/578

  Primary lateral sclerosis (PLS) is a rare neurodegenerative disorder which causes the selective deterioration of the upper motor neurons (UMNs), sparing the lower motor neuron (LMN) system. […] The prevalence of PLS is estimated to be around 2–3% of total cases of MND. However, this data strongly depended on the population considered, since other studies sustained a higher prevalence (up to 5% of the MND population). […] The incidence is thought to be less than 0.1/100,000/year, even though the largest population-based study describing the epidemiology of PLS in Catalonia in the period of 2011–2019 and in Valencia in the period of 2013–2019 pointed out an estimated incidence ranging from 0.2 to 0.6 per 100,000 people per year (higher than expected from previous data). […] A male predominance has been consistently observed in PLS (range of 2–4:1), although other studies suggested a higher prevalence among females; no difference between races have been reported.

• #9 Primary Lateral Sclerosis: Background, Etiology, Epidemiology

  https://emedicine.medscape.com/article/1171782-overview

  Data on the incidence of primary lateral sclerosis (PLS) are uncertain. […] The 8 patients with PLS reported by Pringle et al in 1992 were identified over a period of 10 years among a population of 500 patients with ALS. […] Inferring a population base of approximately 4 million people from the ALS patient data (assuming these are mixed prevalence and incidence data) would result in a prevalence of 2 per million for PLS, assuming all cases were identified. […] Further assuming an average disease duration of 20 years (close to the reported median of 19 y), this prevalence would translate into an annual PLS incidence rate of 1 per 10 million (0.01 case per 100,000 population per year), which is approximately 0.5% of that for ALS. […] The tentative nature of these estimates should be emphasized.

• #10 Primary Lateral Sclerosis: Background, Etiology, Epidemiology

  https://emedicine.medscape.com/article/1171782-overview

  They are consistent with a conservative estimate that not more than 500 people with PLS currently are living in the United States. […] Independent validation of this estimate would be difficult. […] In addition, review of the cases in the Pringle study suggests that half may not have had PLS; this would reduce the above estimates accordingly. […] Repeating this calculation, using the more recent numbers 43 patients with PLS and 661 patients with ALS seen over a period of 17 years, results in a presumptive population base of 13,220,000. […] Factoring an average PLS duration of 20 years, of the 43 PLS patients, approximately one half would be alive at any point in time, giving a prevalence of 1.6 per million, which translates into an incidence rate of 0.8 per 10 million per year and an estimated 400 people with PLS currently living in the United States. […] These estimates are lower than the previous estimates, in which the author did not take into account loss of PLS patients over the time they were accrued.

• #11 Orphanet: Primary lateral sclerosis

  https://www.orpha.net/en/disease/detail/35689

  Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production. […] Prevalence: 1-9 / 100 000. […] Research activities on this disease include registry(ies) (29).

• #12 Primary Lateral Sclerosis: Background, Etiology, Epidemiology

  https://emedicine.medscape.com/article/1171782-overview

  They are consistent with a conservative estimate that not more than 500 people with PLS currently are living in the United States. […] Independent validation of this estimate would be difficult. […] In addition, review of the cases in the Pringle study suggests that half may not have had PLS; this would reduce the above estimates accordingly. […] Repeating this calculation, using the more recent numbers 43 patients with PLS and 661 patients with ALS seen over a period of 17 years, results in a presumptive population base of 13,220,000. […] Factoring an average PLS duration of 20 years, of the 43 PLS patients, approximately one half would be alive at any point in time, giving a prevalence of 1.6 per million, which translates into an incidence rate of 0.8 per 10 million per year and an estimated 400 people with PLS currently living in the United States. […] These estimates are lower than the previous estimates, in which the author did not take into account loss of PLS patients over the time they were accrued.

• #13 Primary Lateral Sclerosis | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/1688598/all/Primary_Lateral_Sclerosis?q=Myositis

  Primary lateral sclerosis (PLS) is a rare progressive degenerative disease of the corticospinal and corticobulbar tracts (upper motor neurons [UMNs]), which spares the anterior horn cells. […] Found in 13% of patients with motor neuron disorder. […] Onset is usually after age 40 years, although a juvenile form has been described. […] Mean age at symptom onset is 54 years. […] There is a slight male predominance, which is similar to ALS. […] Incidence is difficult to determine due to rarity, misdiagnosis, and changing diagnosis. An estimated 1/10 million per year or 300 to 500 people in the United States are diagnosed yearly. […] Estimated prevalence is 10 to 20 per million.

• #14 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is predominantly a disorder in men with a man-to-woman ratio between 2:1 and 4:1, which represents about 2% to 3% of patients with motor neuron disease. The incidence is estimated at 0.1 per 100,00 per year. No differences in ethnicity have been reported. Symptoms typically start around the 5th to 6th decade of life, with the mean age of symptoms around 50 years, although heterogeneity exists. Age of onset can help clinicians diagnose PLS as this is nearly a decade earlier than nonfamilial ALS and almost a decade earlier than HSP. […] PLS is a selective upper motor neuron disorder characterized by insidious onset of symptoms in the absence of lower motor neuron involvement. This condition is a diagnosis of exclusion. Therefore, other causes of upper motor neuron dysfunction, including hereditary spastic paraplegia, must be ruled out. The clinical course of PLS is typically more prolonged and benign than that of amyotrophic lateral sclerosis (ALS).

• #15 Primary Lateral Sclerosis: An Overview

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10816328/

  Primary lateral sclerosis (PLS) is a rare neurodegenerative disorder which causes the selective deterioration of the upper motor neurons (UMNs), sparing the lower motor neuron (LMN) system. […] The prevalence of PLS is estimated to be around 23% of total cases of MND. However, this data strongly depended on the population considered, since other studies sustained a higher prevalence (up to 5% of the MND population). The incidence is thought to be less than 0.1/100,000/year, even though the largest population-based study describing the epidemiology of PLS in Catalonia in the period of 2011-2019 and in Valencia in the period of 2013-2019 pointed out an estimated incidence ranging from 0.2 to 0.6 per 100,000 people per year (higher than expected from previous data). […] A male predominance has been consistently observed in PLS (range of 24:1), although other studies suggested a higher prevalence among females; no difference between races have been reported.

• #16 Primary Lateral Sclerosis: An Overview

  https://www.mdpi.com/2077-0383/13/2/578

  Primary lateral sclerosis (PLS) is a rare neurodegenerative disorder which causes the selective deterioration of the upper motor neurons (UMNs), sparing the lower motor neuron (LMN) system. […] The prevalence of PLS is estimated to be around 2–3% of total cases of MND. However, this data strongly depended on the population considered, since other studies sustained a higher prevalence (up to 5% of the MND population). […] The incidence is thought to be less than 0.1/100,000/year, even though the largest population-based study describing the epidemiology of PLS in Catalonia in the period of 2011–2019 and in Valencia in the period of 2013–2019 pointed out an estimated incidence ranging from 0.2 to 0.6 per 100,000 people per year (higher than expected from previous data). […] A male predominance has been consistently observed in PLS (range of 2–4:1), although other studies suggested a higher prevalence among females; no difference between races have been reported.

• #17 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is predominantly a disorder in men with a man-to-woman ratio between 2:1 and 4:1, which represents about 2% to 3% of patients with motor neuron disease. The incidence is estimated at 0.1 per 100,00 per year. No differences in ethnicity have been reported. Symptoms typically start around the 5th to 6th decade of life, with the mean age of symptoms around 50 years, although heterogeneity exists. Age of onset can help clinicians diagnose PLS as this is nearly a decade earlier than nonfamilial ALS and almost a decade earlier than HSP. […] PLS is a selective upper motor neuron disorder characterized by insidious onset of symptoms in the absence of lower motor neuron involvement. This condition is a diagnosis of exclusion. Therefore, other causes of upper motor neuron dysfunction, including hereditary spastic paraplegia, must be ruled out. The clinical course of PLS is typically more prolonged and benign than that of amyotrophic lateral sclerosis (ALS).

• #18 Primary Lateral Sclerosis: An Overview

  https://www.mdpi.com/2077-0383/13/2/578

  Primary lateral sclerosis (PLS) is a rare neurodegenerative disorder which causes the selective deterioration of the upper motor neurons (UMNs), sparing the lower motor neuron (LMN) system. […] The prevalence of PLS is estimated to be around 2–3% of total cases of MND. However, this data strongly depended on the population considered, since other studies sustained a higher prevalence (up to 5% of the MND population). […] The incidence is thought to be less than 0.1/100,000/year, even though the largest population-based study describing the epidemiology of PLS in Catalonia in the period of 2011–2019 and in Valencia in the period of 2013–2019 pointed out an estimated incidence ranging from 0.2 to 0.6 per 100,000 people per year (higher than expected from previous data). […] A male predominance has been consistently observed in PLS (range of 2–4:1), although other studies suggested a higher prevalence among females; no difference between races have been reported.

• #19 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is predominantly a disorder in men with a man-to-woman ratio between 2:1 and 4:1, which represents about 2% to 3% of patients with motor neuron disease. The incidence is estimated at 0.1 per 100,00 per year. No differences in ethnicity have been reported. Symptoms typically start around the 5th to 6th decade of life, with the mean age of symptoms around 50 years, although heterogeneity exists. Age of onset can help clinicians diagnose PLS as this is nearly a decade earlier than nonfamilial ALS and almost a decade earlier than HSP. […] PLS is a selective upper motor neuron disorder characterized by insidious onset of symptoms in the absence of lower motor neuron involvement. This condition is a diagnosis of exclusion. Therefore, other causes of upper motor neuron dysfunction, including hereditary spastic paraplegia, must be ruled out. The clinical course of PLS is typically more prolonged and benign than that of amyotrophic lateral sclerosis (ALS).

• #20 Primary lateral sclerosis (PLS) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-lateral-sclerosis/symptoms-causes/syc-20353968

  Primary lateral sclerosis (PLS) is a type of motor neuron disease. This rare condition can develop at any age, but it usually occurs between ages 40 and 60. PLS is more common in men than in women. Rarely, PLS can begin in early childhood. […] PLS is often mistaken for another, more common motor neuron disease called amyotrophic lateral sclerosis (ALS). In most people, PLS isn’t fatal. […] There are no established environmental risk factors for primary lateral sclerosis. […] It can take as long as 20 years for primary lateral sclerosis to progress and become worse. For most people, adult-onset PLS isn’t thought to shorten life expectancy.

• #21 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is predominantly a disorder in men with a man-to-woman ratio between 2:1 and 4:1, which represents about 2% to 3% of patients with motor neuron disease. The incidence is estimated at 0.1 per 100,00 per year. No differences in ethnicity have been reported. Symptoms typically start around the 5th to 6th decade of life, with the mean age of symptoms around 50 years, although heterogeneity exists. Age of onset can help clinicians diagnose PLS as this is nearly a decade earlier than nonfamilial ALS and almost a decade earlier than HSP. […] PLS is a selective upper motor neuron disorder characterized by insidious onset of symptoms in the absence of lower motor neuron involvement. This condition is a diagnosis of exclusion. Therefore, other causes of upper motor neuron dysfunction, including hereditary spastic paraplegia, must be ruled out. The clinical course of PLS is typically more prolonged and benign than that of amyotrophic lateral sclerosis (ALS).

• #22 Primary Lateral Sclerosis: Background, Etiology, Epidemiology

  https://emedicine.medscape.com/article/1171782-overview

  They are consistent with a conservative estimate that not more than 500 people with PLS currently are living in the United States. […] Independent validation of this estimate would be difficult. […] In addition, review of the cases in the Pringle study suggests that half may not have had PLS; this would reduce the above estimates accordingly. […] Repeating this calculation, using the more recent numbers 43 patients with PLS and 661 patients with ALS seen over a period of 17 years, results in a presumptive population base of 13,220,000. […] Factoring an average PLS duration of 20 years, of the 43 PLS patients, approximately one half would be alive at any point in time, giving a prevalence of 1.6 per million, which translates into an incidence rate of 0.8 per 10 million per year and an estimated 400 people with PLS currently living in the United States. […] These estimates are lower than the previous estimates, in which the author did not take into account loss of PLS patients over the time they were accrued.

• #23 Primary Lateral Sclerosis | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/1688598/all/Primary_Lateral_Sclerosis?q=Myositis

  Primary lateral sclerosis (PLS) is a rare progressive degenerative disease of the corticospinal and corticobulbar tracts (upper motor neurons [UMNs]), which spares the anterior horn cells. […] Found in 13% of patients with motor neuron disorder. […] Onset is usually after age 40 years, although a juvenile form has been described. […] Mean age at symptom onset is 54 years. […] There is a slight male predominance, which is similar to ALS. […] Incidence is difficult to determine due to rarity, misdiagnosis, and changing diagnosis. An estimated 1/10 million per year or 300 to 500 people in the United States are diagnosed yearly. […] Estimated prevalence is 10 to 20 per million.

• #24 My Journey with Primary Lateral Sclerosis (PLS) | Synapticure

  https://www.synapticure.com/blog/my-pls-journey

  Primary lateral sclerosis is a rare, debilitating neurodegenerative illness that is on the spectrum of motor neuron diseases. […] Estimates suggest roughly 400 U.S. citizens have PLS. […] Once a person is diagnosed with probable PLS, there is a waiting period of 4 to 5 years before it is confirmed. […] The average PLS patient is typically denied durable medical equipment, disability benefits, employment accommodations and much more. […] Unfortunately, many in the PLS community dont have neurologists who will do this or who will prescribe drugs off label or make any accommodations whatsoever because on paper it says PLS. […] There are PLS patients who eliminate neurology visits entirely because they receive zero help.

• #25 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is predominantly a disorder in men with a man-to-woman ratio between 2:1 and 4:1, which represents about 2% to 3% of patients with motor neuron disease. The incidence is estimated at 0.1 per 100,00 per year. No differences in ethnicity have been reported. Symptoms typically start around the 5th to 6th decade of life, with the mean age of symptoms around 50 years, although heterogeneity exists. Age of onset can help clinicians diagnose PLS as this is nearly a decade earlier than nonfamilial ALS and almost a decade earlier than HSP. […] PLS is a selective upper motor neuron disorder characterized by insidious onset of symptoms in the absence of lower motor neuron involvement. This condition is a diagnosis of exclusion. Therefore, other causes of upper motor neuron dysfunction, including hereditary spastic paraplegia, must be ruled out. The clinical course of PLS is typically more prolonged and benign than that of amyotrophic lateral sclerosis (ALS).

• #26 Primary lateral sclerosis: consensus diagnostic criteria | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/91/4/373

  Primary lateral sclerosis (PLS) is a neurodegenerative disorder of the adult motor system. Characterised by a slowly progressive upper motor neuron syndrome, the diagnosis is clinical, after exclusion of structural, neurodegenerative and metabolic mimics. […] Current diagnostic criteria for PLS may be a barrier to therapeutic development, requiring long delays between symptom onset and formal diagnosis. […] The clinical imprecision in the diagnosis, along with some uncertainty about overlap with UMN-predominant ALS has become an obstacle to therapeutic development for PLS. […] A revised framework is proposed to facilitate the earlier diagnosis of PLS. […] The diagnosis of PLS requires the presence of symptoms of progressive upper motor neuron (UMN) dysfunction for at least 2 years. […] The classical syndrome of PLS appears to be sporadic and the diagnosis based on clinical features. […] Developments in neuroimaging, neurophysiology and molecular biology have not diminished the long-standing recognition of PLS as a distinct, clinically-defined syndrome.

• #27 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is caused by dysfunction of the descending corticospinal tracts, although the precise molecular and cellular mechanisms remain unclear. PLS is a sporadic disease; only a small percentage of patients with clinically definite criteria for PLS will have identifiable pathological mutations. […] The 2020 consensus diagnostic criteria for PLS include age older than 25, symptoms of progressive UMN dysfunction for at least 2 years involving at least 2 of 3 regions (ie, lower extremity, upper extremity, or bulbar), and the absence of sensory symptoms unexplained by a comorbid condition, active LMN degeneration, or an alternative diagnosis that better explains symptoms. […] Patients with PLS often have a benign clinical course with a more prolonged survival compared to patients with ALS. Patients with PLS are frequently concerned about possible progression to ALS. Most patients with UMN-predominant ALS will develop LMN signs or EMG changes within 4 years of symptoms onset.

• #28 Primary lateral sclerosis: consensus diagnostic criteria | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/91/4/373

  Primary lateral sclerosis (PLS) is a neurodegenerative disorder of the adult motor system. Characterised by a slowly progressive upper motor neuron syndrome, the diagnosis is clinical, after exclusion of structural, neurodegenerative and metabolic mimics. […] Current diagnostic criteria for PLS may be a barrier to therapeutic development, requiring long delays between symptom onset and formal diagnosis. […] The clinical imprecision in the diagnosis, along with some uncertainty about overlap with UMN-predominant ALS has become an obstacle to therapeutic development for PLS. […] A revised framework is proposed to facilitate the earlier diagnosis of PLS. […] The diagnosis of PLS requires the presence of symptoms of progressive upper motor neuron (UMN) dysfunction for at least 2 years. […] The classical syndrome of PLS appears to be sporadic and the diagnosis based on clinical features. […] Developments in neuroimaging, neurophysiology and molecular biology have not diminished the long-standing recognition of PLS as a distinct, clinically-defined syndrome.

• #29 Primary Lateral Sclerosis

  https://www.brainfacts.org/diseases-and-disorders/neurological-disorders-az/diseases-a-to-z-from-ninds/primary-lateral-sclerosis

  PLS is more common in men than in women, with a varied gradual onset that generally occurs between ages 40 and 60. […] The diagnosis of PLS requires extensive testing to exclude other diseases. […] Most neurologists follow an affected individual’s clinical course for at least 3 to 4 years before making a diagnosis of PLS.

• #30 Primary lateral sclerosis (PLS) | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/primary-lateral-sclerosis-pls

  Primary lateral sclerosis (PLS) is a type of motor neuron disease. This rare condition can develop at any age, but it usually occurs between ages 40 and 60. PLS is more common in men than in women. […] There are no established environmental risk factors for primary lateral sclerosis. […] It can take as long as 20 years for primary lateral sclerosis to progress and become worse. For most people, adult-onset PLS isn’t thought to shorten life expectancy. […] There is no single test that confirms a diagnosis of primary lateral sclerosis (PLS). PLS can have symptoms similar to other neurological diseases such as multiple sclerosis and ALS. […] Sometimes it takes 3 to 4 years before a diagnosis can be made.

• #31 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is caused by dysfunction of the descending corticospinal tracts, although the precise molecular and cellular mechanisms remain unclear. PLS is a sporadic disease; only a small percentage of patients with clinically definite criteria for PLS will have identifiable pathological mutations. […] The 2020 consensus diagnostic criteria for PLS include age older than 25, symptoms of progressive UMN dysfunction for at least 2 years involving at least 2 of 3 regions (ie, lower extremity, upper extremity, or bulbar), and the absence of sensory symptoms unexplained by a comorbid condition, active LMN degeneration, or an alternative diagnosis that better explains symptoms. […] Patients with PLS often have a benign clinical course with a more prolonged survival compared to patients with ALS. Patients with PLS are frequently concerned about possible progression to ALS. Most patients with UMN-predominant ALS will develop LMN signs or EMG changes within 4 years of symptoms onset.

• #32 Primary lateral sclerosis: consensus diagnostic criteria | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/91/4/373

  Primary lateral sclerosis (PLS) is a neurodegenerative disorder of the adult motor system. Characterised by a slowly progressive upper motor neuron syndrome, the diagnosis is clinical, after exclusion of structural, neurodegenerative and metabolic mimics. […] Current diagnostic criteria for PLS may be a barrier to therapeutic development, requiring long delays between symptom onset and formal diagnosis. […] The clinical imprecision in the diagnosis, along with some uncertainty about overlap with UMN-predominant ALS has become an obstacle to therapeutic development for PLS. […] A revised framework is proposed to facilitate the earlier diagnosis of PLS. […] The diagnosis of PLS requires the presence of symptoms of progressive upper motor neuron (UMN) dysfunction for at least 2 years. […] The classical syndrome of PLS appears to be sporadic and the diagnosis based on clinical features. […] Developments in neuroimaging, neurophysiology and molecular biology have not diminished the long-standing recognition of PLS as a distinct, clinically-defined syndrome.

• #33 Primary lateral sclerosis: consensus diagnostic criteria.

  https://escholarship.org/uc/item/99h3q92s

  Primary lateral sclerosis (PLS) is a neurodegenerative disorder of the adult motor system. Characterised by a slowly progressive upper motor neuron syndrome, the diagnosis is clinical, after exclusion of structural, neurodegenerative and metabolic mimics. […] Current diagnostic criteria for PLS may be a barrier to therapeutic development, requiring long delays between symptom onset and formal diagnosis. […] While new technologies sensitive to both upper and lower motor neuron involvement may ultimately resolve controversies in the diagnosis of PLS, we present updated consensus diagnostic criteria with the aim of reducing diagnostic delay, optimising therapeutic trial design and catalysing the development of disease-modifying therapy.

• #34

  https://journals.lww.com/nrronline/fulltext/2024/09000/primary_lateral_sclerosis__more_than_just_an_upper.11.aspx

  Primary lateral sclerosis (PLS) has traditionally been regarded as a pure upper motor neuron condition, a view perpetuated by most medical textbooks. […] The epidemiology literature of PLS is less robust, and key variables, such as incidence, prevalence, and the average symptom onset to diagnosis interval are relatively poorly characterized. […] Given the relatively low incidence of PLS, there is an imperative for effective international collaboration, data-sharing, and protocol harmonization.

• #35 Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03729-6

  Primary lateral sclerosis (PLS) is an extremely rare condition; therefore, to date no clinical studies have been conducted. […] PLS is rare, occurring in less than 5% of motor neuron diseases; therefore to date, no therapeutic agents or clinical trials have been evaluated. […] The PLSFRS is an essential tool for future international collaborative studies and clinical trials for PLS. […] To develop therapeutic drugs in the future, it will be necessary to work globally, which includes collecting cases; therefore, creating a Japanese version of the PLSFRS is essential. […] The availability of quick and reliable measures that can be administered over the telephone is indispensable for conducting this type of research. […] The Japanese version of the PLSFRS may be a valuable indicator for assessing medical conditions, even when face-to-face assessment is impossible due to disasters or hospital visit burdens.

• #36 Primary Lateral Sclerosis: An Overview

  https://www.mdpi.com/2077-0383/13/2/578

  There is a general agreement about the fact that PLS is an extremely rare disease, and part of the scientific community still doubts its existence as a unique entity. […] The clinical course is characterized by a progressive motor disability due to muscle spasticity which typically involves lower extremities and bulbar muscles. […] The main knowledge gap is the lack of specific biomarkers to improve the clinical diagnostic accuracy. […] The diagnostic imprecision, together with some uncertainty about overlap with UMN-predominant ALS and Hereditary Spastic Paraplegia (HSP), has become an obstacle to the development of specific therapeutic trials. […] In this narrative review, we provided a comprehensive analysis of the existing literature, including neuropathological, clinical, neuroimaging, and neurophysiological features of the disease, and highlighting the controversies still unsolved in the differential diagnoses and the current diagnostic criteria. […] The most accurate diagnosis possible will, in turn, allow us to study more homogeneous patient samples with a view to obtaining a better pathophysiological interpretation of the disease and, last but not least, to identify possible disease-modifying treatments.

• #37

  https://journals.lww.com/nrronline/fulltext/2024/09000/primary_lateral_sclerosis__more_than_just_an_upper.11.aspx

  Primary lateral sclerosis (PLS) has traditionally been regarded as a pure upper motor neuron condition, a view perpetuated by most medical textbooks. […] The epidemiology literature of PLS is less robust, and key variables, such as incidence, prevalence, and the average symptom onset to diagnosis interval are relatively poorly characterized. […] Given the relatively low incidence of PLS, there is an imperative for effective international collaboration, data-sharing, and protocol harmonization.

• #38

  https://journals.lww.com/nrronline/fulltext/2024/09000/primary_lateral_sclerosis__more_than_just_an_upper.11.aspx

  Primary lateral sclerosis (PLS) has traditionally been regarded as a pure upper motor neuron condition, a view perpetuated by most medical textbooks. […] The epidemiology literature of PLS is less robust, and key variables, such as incidence, prevalence, and the average symptom onset to diagnosis interval are relatively poorly characterized. […] Given the relatively low incidence of PLS, there is an imperative for effective international collaboration, data-sharing, and protocol harmonization.

• #39 Orphanet: Primary lateral sclerosis

  https://www.orpha.net/en/disease/detail/35689

  Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production. […] Prevalence: 1-9 / 100 000. […] Research activities on this disease include registry(ies) (29).

• #40 PLS Natural History Study (PNHS) | NEALS

  https://neals.org/als-trials/NEALS5827

  The purpose of this study is to improve the current research status of Primary Lateral Sclerosis (PLS) by studying the natural history of the disease to determine how it progresses without any drug treatment. […] The study will investigate natural history of disease by dividing participants into two groups: early PLS (less than 4 years since symptom onset) and well-established PLS (more than 4 but less than 15 years since symptom onset). […] Were hoping that information gained from this project will prepare the research community for future clinical trials in PLS.

• #41 Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03729-6

  Primary lateral sclerosis (PLS) is an extremely rare condition; therefore, to date no clinical studies have been conducted. […] PLS is rare, occurring in less than 5% of motor neuron diseases; therefore to date, no therapeutic agents or clinical trials have been evaluated. […] The PLSFRS is an essential tool for future international collaborative studies and clinical trials for PLS. […] To develop therapeutic drugs in the future, it will be necessary to work globally, which includes collecting cases; therefore, creating a Japanese version of the PLSFRS is essential. […] The availability of quick and reliable measures that can be administered over the telephone is indispensable for conducting this type of research. […] The Japanese version of the PLSFRS may be a valuable indicator for assessing medical conditions, even when face-to-face assessment is impossible due to disasters or hospital visit burdens.

• #42 Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts | medRxiv

  https://www.medrxiv.org/content/10.1101/2023.07.19.23292817v1

  Primary lateral sclerosis (PLS) is the rarest form of motor neurone disease (MND). It is characterized by upper motor neuron degeneration, leading to progressive weakness, spasticity and functional disability. […] One of the biggest challenges faced by people with PLS is delayed diagnosis and misdiagnosis, since the initial symptoms can be similar to amyotrophic lateral sclerosis (ALS), the most common form of MND. […] Understanding the genetic basis of PLS might help in reducing the time from the onset of symptoms to diagnosis, and it will improve our understanding of the disease biology favouring the development of a treatment. […] The aim of our study is to collect a large international PLS genetic and clinical dataset to investigate its genetic and phenotypic landscapes as well as to evaluate whether genetic testing should be advised in PLS.

• #43 Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03729-6

  This study provides the results for the Japanese version of the PLSFRS intra-rater and inter-rater reliability and an evaluation of the consistency between in-person and telephone interviews. Similar to the ALSFRS-R for amyotrophic lateral sclerosis, we believe that the Japanese version of the PLSFRS will be widely used not only by neurologists but also by internists and medical staff other than doctors and is a well-validated tool for PLS researchers to conduct future clinical trials.

• #44 PLS Natural History Study (PNHS) | NEALS

  https://neals.org/als-trials/NEALS5827

  The purpose of this study is to improve the current research status of Primary Lateral Sclerosis (PLS) by studying the natural history of the disease to determine how it progresses without any drug treatment. […] The study will investigate natural history of disease by dividing participants into two groups: early PLS (less than 4 years since symptom onset) and well-established PLS (more than 4 but less than 15 years since symptom onset). […] Were hoping that information gained from this project will prepare the research community for future clinical trials in PLS.

• #45 PLS vs. ALS: Causes, Symptoms, Treatment, and OutlookHealthline

  https://www.healthline.com/health/pls-vs-als

  PLS and ALS are two types of motor neuron disease. PLS affects only upper motor neurons and progresses slowly. ALS affects both upper and lower motor neurons and progresses more quickly. […] An estimated 268,674 people around the world were living with a motor neuron disease in 2019. […] There are few known risk factors for PLS. Most people develop it between the ages of 40 and 60. It’s also more common in people assigned male at birth. […] ALS is more common than PLS. It makes up an estimated 85% of motor neuron diseases, while PLS only accounts for 2–3% of all motor neuron diseases.

• #46 PLS vs. ALS: Causes, Symptoms, Treatment, and OutlookHealthline

  https://www.healthline.com/health/pls-vs-als

  PLS and ALS are two types of motor neuron disease. PLS affects only upper motor neurons and progresses slowly. ALS affects both upper and lower motor neurons and progresses more quickly. […] An estimated 268,674 people around the world were living with a motor neuron disease in 2019. […] There are few known risk factors for PLS. Most people develop it between the ages of 40 and 60. It’s also more common in people assigned male at birth. […] ALS is more common than PLS. It makes up an estimated 85% of motor neuron diseases, while PLS only accounts for 2–3% of all motor neuron diseases.

• #47 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is predominantly a disorder in men with a man-to-woman ratio between 2:1 and 4:1, which represents about 2% to 3% of patients with motor neuron disease. The incidence is estimated at 0.1 per 100,00 per year. No differences in ethnicity have been reported. Symptoms typically start around the 5th to 6th decade of life, with the mean age of symptoms around 50 years, although heterogeneity exists. Age of onset can help clinicians diagnose PLS as this is nearly a decade earlier than nonfamilial ALS and almost a decade earlier than HSP. […] PLS is a selective upper motor neuron disorder characterized by insidious onset of symptoms in the absence of lower motor neuron involvement. This condition is a diagnosis of exclusion. Therefore, other causes of upper motor neuron dysfunction, including hereditary spastic paraplegia, must be ruled out. The clinical course of PLS is typically more prolonged and benign than that of amyotrophic lateral sclerosis (ALS).

• #48 Amyotrophic Lateral Sclerosis and its Mimics/Variants: A Comprehensive Review – Journal of Clinical Imaging Science

  https://clinicalimagingscience.org/amyotrophic-lateral-sclerosis-and-its-mimics-variants-a-comprehensive-review/

  Primary lateral sclerosis (PLS) is a disorder characterized by gradual UMN degeneration, resulting in spinobulbar spasticity with relative sparing of the lower motor neurons. It is typically suggested after at least 3 years of isolated UMN symptoms according to Pringle et al. The most common clinical symptoms of pure PLS are spasticity, dysarthria, or compulsive laughing/crying. Studies have shown that spasticity without wasting after at least 3 years is more suggestive of PLS compared to other MNDs. In dedicated MND clinics, PLS is seen in approximately 1%4% of cases. […] PLS subtypes can be distinguished by symptomatic progression or genetic patterns. Symptomatic subtypes include ascending and multifocal, both of which can present asymmetrically. The ascending subtype characteristically shows gradual progression of symptoms from the lower extremities, initially, with subsequent involvement of the upper extremities and, finally, bulbar/pseudobulbar symptoms such as muscle spasticity and dysarthria. Zhai et al demonstrated that upper extremity symptoms on average manifest 3.6 years after the lower extremity presentation with pseudobulbar/bulbar symptoms beginning 1.5 years after the upper extremity symptomatology. The multifocal subtype, on the other hand, shows patchy and asymmetric involvement which can range from initial bulbar symptoms to progressive hemiparesis. Studies have shown that patients who present with initial limb symptoms, amongst the multifocal subtype cohort, have long periods of stability, spanning multiple years, before progression to another limb group.

• #49 ALS – Wikipedia

  https://en.wikipedia.org/wiki/ALS

  Primary lateral sclerosis (PLS) is a subtype of the overall ALS category which accounts for about 5% of all cases and only affects the upper motor neurons in the arms, legs, and bulbar region. However, more than 75% of people with apparent PLS go on to later develop lower motor neuron signs within four years of symptom onset, meaning that a definitive diagnosis of PLS cannot be made until several years have passed. PLS has a better prognosis than classical ALS, as it progresses slower, results in less functional decline, does not affect the ability to breathe, and causes less severe weight loss than classical ALS.

• #50 Hypothalamic atrophy in primary lateral sclerosis, assessed by convolutional neural network-based automatic segmentation | Scientific Reports

  https://www.nature.com/articles/s41598-025-85786-6

  Therefore, the current neuroimaging study on hypothalamus volume demonstrates another common feature of PLS and ALS supporting that PLS might be a subtype of ALS rather than an independent disease entity which is the topic of an ongoing clinical discussion. […] The finding of hypothalamic atrophy (of the same magnitude as in ALS) also in PLS might indicate that the protection of the LMN could be associated with some protective factors for metabolic changes which might be a contributor to the much longer survival times in PLS.

• #51 8 years since my diagnosis – Primary Lateral Sclerosis – Rare Disease Day 2026

  https://www.rarediseaseday.org/heroes/8-years-since-my-diagnosis-primary-lateral-sclerosis/

  On January 31, 2008 I was diagnosed with upper motor neuron disease or Primary Lateral Sclerosis. […] Since PLS is a diagnosis of exclusion (meaning all diseases they are able to test for have been tested for and you dont have them, they use that and your clinical presentation of neurological symptoms and diagnose you with PLS. […] There are varying opinions regarding PLS and whether or not it is a variant of ALS (benign or non-fatal) or if it is a separate disease altogether. […] There are also varying opinions as to whether everyone diagnosed with PLS (which may be 500 people in the US or up to as many as 2000) actually has the same illness, due to the variance in symptoms and progression.

• #52 ALS – Wikipedia

  https://en.wikipedia.org/wiki/ALS

  ALS is the most common motor neuron disease in adults and the third most common neurodegenerative disease after Alzheimer’s disease and Parkinson’s disease. Worldwide the number of people who develop ALS yearly is estimated to be 1.9 people per 100,000 per year, while the number of people who have ALS at any given time is estimated to be about 4.5 people per 100,000. In Europe, the number of new cases a year is about 2.6 people per 100,000, while the number affected is 79 people per 100,000. The lifetime risk of developing ALS is 1:350 for European men and 1:400 for European women. Men have a higher risk mainly because spinal-onset ALS is more common in men than women. The number of those with ALS in the United States in 2015 was 5.2 people per 100,000, and was higher in whites, males, and people over 60 years old. The number of new cases is about 0.8 people per 100,000 per year in East Asia and about 0.7 people per 100,000 per year in South Asia. About 80% of ALS epidemiology studies have been conducted in Europe and the United States, mostly in people of northern European descent. There is not enough information to determine the rates of ALS in much of the world, including Africa, parts of Asia, India, Russia, and South America. There are several geographic clusters in the Western Pacific where the prevalence of ALS was reported to be 50-100 times higher than in the rest of the world, including Guam, the Kii Peninsula of Japan, and Western New Guinea. The incidence in these areas has decreased since the 1960s; the cause remains unknown.

• #53 Primary Lateral Sclerosis: An Overview

  https://www.mdpi.com/2077-0383/13/2/578

  Primary lateral sclerosis (PLS) is a rare neurodegenerative disorder which causes the selective deterioration of the upper motor neurons (UMNs), sparing the lower motor neuron (LMN) system. […] The prevalence of PLS is estimated to be around 2–3% of total cases of MND. However, this data strongly depended on the population considered, since other studies sustained a higher prevalence (up to 5% of the MND population). […] The incidence is thought to be less than 0.1/100,000/year, even though the largest population-based study describing the epidemiology of PLS in Catalonia in the period of 2011–2019 and in Valencia in the period of 2013–2019 pointed out an estimated incidence ranging from 0.2 to 0.6 per 100,000 people per year (higher than expected from previous data). […] A male predominance has been consistently observed in PLS (range of 2–4:1), although other studies suggested a higher prevalence among females; no difference between races have been reported.

• #54 ALS – Wikipedia

  https://en.wikipedia.org/wiki/ALS

  ALS is the most common motor neuron disease in adults and the third most common neurodegenerative disease after Alzheimer’s disease and Parkinson’s disease. Worldwide the number of people who develop ALS yearly is estimated to be 1.9 people per 100,000 per year, while the number of people who have ALS at any given time is estimated to be about 4.5 people per 100,000. In Europe, the number of new cases a year is about 2.6 people per 100,000, while the number affected is 79 people per 100,000. The lifetime risk of developing ALS is 1:350 for European men and 1:400 for European women. Men have a higher risk mainly because spinal-onset ALS is more common in men than women. The number of those with ALS in the United States in 2015 was 5.2 people per 100,000, and was higher in whites, males, and people over 60 years old. The number of new cases is about 0.8 people per 100,000 per year in East Asia and about 0.7 people per 100,000 per year in South Asia. About 80% of ALS epidemiology studies have been conducted in Europe and the United States, mostly in people of northern European descent. There is not enough information to determine the rates of ALS in much of the world, including Africa, parts of Asia, India, Russia, and South America. There are several geographic clusters in the Western Pacific where the prevalence of ALS was reported to be 50-100 times higher than in the rest of the world, including Guam, the Kii Peninsula of Japan, and Western New Guinea. The incidence in these areas has decreased since the 1960s; the cause remains unknown.

• #55 Orphanet: Primary lateral sclerosis

  https://www.orpha.net/en/disease/detail/35689

  Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production. […] Prevalence: 1-9 / 100 000. […] Research activities on this disease include registry(ies) (29).

• #56 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is predominantly a disorder in men with a man-to-woman ratio between 2:1 and 4:1, which represents about 2% to 3% of patients with motor neuron disease. The incidence is estimated at 0.1 per 100,00 per year. No differences in ethnicity have been reported. Symptoms typically start around the 5th to 6th decade of life, with the mean age of symptoms around 50 years, although heterogeneity exists. Age of onset can help clinicians diagnose PLS as this is nearly a decade earlier than nonfamilial ALS and almost a decade earlier than HSP. […] PLS is a selective upper motor neuron disorder characterized by insidious onset of symptoms in the absence of lower motor neuron involvement. This condition is a diagnosis of exclusion. Therefore, other causes of upper motor neuron dysfunction, including hereditary spastic paraplegia, must be ruled out. The clinical course of PLS is typically more prolonged and benign than that of amyotrophic lateral sclerosis (ALS).

• #57 ALS – Wikipedia

  https://en.wikipedia.org/wiki/ALS

  ALS is the most common motor neuron disease in adults and the third most common neurodegenerative disease after Alzheimer’s disease and Parkinson’s disease. Worldwide the number of people who develop ALS yearly is estimated to be 1.9 people per 100,000 per year, while the number of people who have ALS at any given time is estimated to be about 4.5 people per 100,000. In Europe, the number of new cases a year is about 2.6 people per 100,000, while the number affected is 79 people per 100,000. The lifetime risk of developing ALS is 1:350 for European men and 1:400 for European women. Men have a higher risk mainly because spinal-onset ALS is more common in men than women. The number of those with ALS in the United States in 2015 was 5.2 people per 100,000, and was higher in whites, males, and people over 60 years old. The number of new cases is about 0.8 people per 100,000 per year in East Asia and about 0.7 people per 100,000 per year in South Asia. About 80% of ALS epidemiology studies have been conducted in Europe and the United States, mostly in people of northern European descent. There is not enough information to determine the rates of ALS in much of the world, including Africa, parts of Asia, India, Russia, and South America. There are several geographic clusters in the Western Pacific where the prevalence of ALS was reported to be 50-100 times higher than in the rest of the world, including Guam, the Kii Peninsula of Japan, and Western New Guinea. The incidence in these areas has decreased since the 1960s; the cause remains unknown.

• #58 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is predominantly a disorder in men with a man-to-woman ratio between 2:1 and 4:1, which represents about 2% to 3% of patients with motor neuron disease. The incidence is estimated at 0.1 per 100,00 per year. No differences in ethnicity have been reported. Symptoms typically start around the 5th to 6th decade of life, with the mean age of symptoms around 50 years, although heterogeneity exists. Age of onset can help clinicians diagnose PLS as this is nearly a decade earlier than nonfamilial ALS and almost a decade earlier than HSP. […] PLS is a selective upper motor neuron disorder characterized by insidious onset of symptoms in the absence of lower motor neuron involvement. This condition is a diagnosis of exclusion. Therefore, other causes of upper motor neuron dysfunction, including hereditary spastic paraplegia, must be ruled out. The clinical course of PLS is typically more prolonged and benign than that of amyotrophic lateral sclerosis (ALS).

• #59 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is predominantly a disorder in men with a man-to-woman ratio between 2:1 and 4:1, which represents about 2% to 3% of patients with motor neuron disease. The incidence is estimated at 0.1 per 100,00 per year. No differences in ethnicity have been reported. Symptoms typically start around the 5th to 6th decade of life, with the mean age of symptoms around 50 years, although heterogeneity exists. Age of onset can help clinicians diagnose PLS as this is nearly a decade earlier than nonfamilial ALS and almost a decade earlier than HSP. […] PLS is a selective upper motor neuron disorder characterized by insidious onset of symptoms in the absence of lower motor neuron involvement. This condition is a diagnosis of exclusion. Therefore, other causes of upper motor neuron dysfunction, including hereditary spastic paraplegia, must be ruled out. The clinical course of PLS is typically more prolonged and benign than that of amyotrophic lateral sclerosis (ALS).

• #60 Types of MND: ALS, PLS, PBP, PMA, MND/FTD | MND Australia

  https://www.mndaustralia.org.au/mnd-connect/what-is-mnd/types-of-mnd

  Primary lateral sclerosis (PLS) is very rare and affects only the upper motor neurons. PLS can present in similar ways to other types of MND. Initial symptoms of PLS can vary, but may include: problems with balance, stiff or rigid muscles (particularly in the arms or legs), slurring of speech, muscle spasms and cramps. PLS progresses slowly and life expectancy can be 10-20 years or more.

• #61 Types of MND: ALS, PLS, PBP, PMA, MND/FTD | MND Australia

  https://www.mndaustralia.org.au/mnd-connect/what-is-mnd/types-of-mnd

  Primary lateral sclerosis (PLS) is very rare and affects only the upper motor neurons. PLS can present in similar ways to other types of MND. Initial symptoms of PLS can vary, but may include: problems with balance, stiff or rigid muscles (particularly in the arms or legs), slurring of speech, muscle spasms and cramps. PLS progresses slowly and life expectancy can be 10-20 years or more.

• #62 Primary lateral sclerosis (PLS) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-lateral-sclerosis/symptoms-causes/syc-20353968

  Primary lateral sclerosis (PLS) is a type of motor neuron disease. This rare condition can develop at any age, but it usually occurs between ages 40 and 60. PLS is more common in men than in women. Rarely, PLS can begin in early childhood. […] PLS is often mistaken for another, more common motor neuron disease called amyotrophic lateral sclerosis (ALS). In most people, PLS isn’t fatal. […] There are no established environmental risk factors for primary lateral sclerosis. […] It can take as long as 20 years for primary lateral sclerosis to progress and become worse. For most people, adult-onset PLS isn’t thought to shorten life expectancy.

• #63 Primary Lateral Sclerosis | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/164562

  PLS is predominantly a disorder in men with a man-to-woman ratio between 2:1 and 4:1, which represents about 2% to 3% of patients with motor neuron disease. The incidence is estimated at 0.1 per 100,00 per year. No differences in ethnicity have been reported. Symptoms typically start around the 5th to 6th decade of life, with the mean age of symptoms around 50 years, although heterogeneity exists. Age of onset can help clinicians diagnose PLS as this is nearly a decade earlier than nonfamilial ALS and almost a decade earlier than HSP. […] PLS differs from ALS in that the need for a feeding tube or permanent assisted ventilation is low at 7% and less than 1%, respectively. Patients with PLS often have a benign clinical course with a more prolonged survival compared to patients with ALS. Patients with selective UMN involvement who do not develop LMN involvement after 4 years typically remain with pure UMN involvement and have a normal lifespan.

• #64 Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts | medRxiv

  https://www.medrxiv.org/content/10.1101/2023.07.19.23292817v1

  Overall PLS patients harboured fewer clinically actionable MND-associated variants than ALS patients (p = 0.0001), however, depending on the panel, up to 11% of people with PLS might benefit from genetic testing. […] On such bases, we advise that the current diagnostic criteria that discourage the use of genetic testing and rely on age of onset should be reconsidered.

• #65 Primary lateral sclerosis – UMC Utrecht

  https://www.umcutrecht.nl/en/primary-lateral-sclerosis

  PLS typically affects people aged 35-65 years. […] PLS occurs sporadically in the majority of affected individuals. Sporadic is the term used for cases of the disease where there is no family history. […] The causes of PLS and related motor neuron diseases ALS and PMA are not known, and research is ongoing.

• #66 Primary Lateral Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK609096/

  PLS is caused by dysfunction of the descending corticospinal tracts, although the precise molecular and cellular mechanisms remain unclear. PLS is a sporadic disease; only a small percentage of patients with clinically definite criteria for PLS will have identifiable pathological mutations. […] The 2020 consensus diagnostic criteria for PLS include age older than 25, symptoms of progressive UMN dysfunction for at least 2 years involving at least 2 of 3 regions (ie, lower extremity, upper extremity, or bulbar), and the absence of sensory symptoms unexplained by a comorbid condition, active LMN degeneration, or an alternative diagnosis that better explains symptoms. […] Patients with PLS often have a benign clinical course with a more prolonged survival compared to patients with ALS. Patients with PLS are frequently concerned about possible progression to ALS. Most patients with UMN-predominant ALS will develop LMN signs or EMG changes within 4 years of symptoms onset.

• #67

  https://link.springer.com/article/10.1007/s00415-023-11746-7

  Primary lateral sclerosis (PLS) is a motor neuron disease characterised by loss of the upper motor neurons. […] The exact incidence and prevalence of PLS are unknown, but it is estimated that they make up roughly 15% of all MND patients seen at specialized clinics. […] Current consensus criteria for PLS state that there is limited or no place for genetic testing in the work-up for PLS. […] The diagnostic yield of genetic testing for HSP and ALS genes in PLS is 7% based on our findings. […] We do believe that based on the results of Mitsumoto et al. and our cohort, genetic analyses could have a role in the diagnostic work-up of PLS and should not be limited to patients with only symmetrical involvement of the legs. […] This paper offers an in-depth genetic characterization of the largest PLS cohort to date.

• #68

  https://omim.org/entry/606353

  A number sign (#) is used with this entry because of evidence that juvenile primary lateral sclerosis (PLSJ) is caused by homozygous mutation in the gene encoding alsin (ALS2; 606352) on chromosome 2q33. […] PLS is usually a sporadic disorder of adult middle age. However, it has been described in children, and is then referred to as juvenile PLS, and in families in a pattern consistent with autosomal recessive inheritance (Gascon et al., 1995; Lerman-Sagie et al., 1996). […] Yang et al. (2001) identified a homozygous deletion in the ALS2 gene (606353.0002) in 3 affected members of a consanguineous Saudi Arabian family with PLSJ. […] In affected members of a consanguineous Cypriot family with juvenile-onset PLS, Mintchev et al. (2009) identified a homozygous mutation in the ALS2 gene (606353.0013).

• #69 Frontiers | Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome

  https://www.frontiersin.org/journals/molecular-neuroscience/articles/10.3389/fnmol.2021.721047/full

  However, since there is currently no confirmatory diagnostic biomarker, the diagnosis remains clinical, based on a compatible clinical picture and disease course, together with the exclusion of mimics and other neurodegenerative disorders (Turner and Talbot, 2020; Turner et al., 2020). […] Nevertheless, clinically diagnosed PLS and sporadic HSP shows a striking clinical and genetic overlap (Brugman et al., 2009; Mitsumoto et al., 2015; Vázquez-Costa et al., 2016; Yang et al., 2016). Consequently, many patients can be diagnosed either with PLS or with sporadic HSP, using current criteria (Vázquez-Costa et al., 2016). […] Therefore, in PLS cases with these atypical features, the use of amyloid-specific biomarkers should be considered. Moreover, since de novo or autosomal recessive mutations can cause a PLS-like syndrome, the screening of genes involved in neurodegenerative diseases should probably be part of the diagnostic workup of patients with PLS (Yang et al., 2016), even in the absence of family history.

• #70 PLS vs ALS: Difference, Symptoms, Causes, Treatments

  https://www.verywellhealth.com/pls-vs-als-6828402

  PLS is more common in men than women, and the onset of the disease is typically between ages 40 and 60. PLS progresses gradually over several years or even decades. […] In most cases, the exact causes of PLS and ALS are unknown and appear to occur randomly. […] PLS is a genetic disease, meaning it’s caused by a poorly functioning gene known as gene variant SPG7. People may also inherit PLS from their parents. […] Because ALS symptoms develop and worsen so much more quickly than PLS, a diagnosis is easier to make within the first year or two. […] Unfortunately, there is no clear way to prevent PLS or ALS. However, you may want to consider talking with a genetic counselor if you have a family history of motor neuron diseases. […] Primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS) are two rare neurodegenerative diseases that progressively affect voluntary muscle movement over time. Although the diseases are similar, they have different symptoms and require different treatments.

• #71

  https://link.springer.com/article/10.1007/s00415-023-11746-7

  Primary lateral sclerosis (PLS) is a motor neuron disease characterised by loss of the upper motor neurons. […] The exact incidence and prevalence of PLS are unknown, but it is estimated that they make up roughly 15% of all MND patients seen at specialized clinics. […] Current consensus criteria for PLS state that there is limited or no place for genetic testing in the work-up for PLS. […] The diagnostic yield of genetic testing for HSP and ALS genes in PLS is 7% based on our findings. […] We do believe that based on the results of Mitsumoto et al. and our cohort, genetic analyses could have a role in the diagnostic work-up of PLS and should not be limited to patients with only symmetrical involvement of the legs. […] This paper offers an in-depth genetic characterization of the largest PLS cohort to date.

• #72 Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts | medRxiv

  https://www.medrxiv.org/content/10.1101/2023.07.19.23292817v1

  Overall PLS patients harboured fewer clinically actionable MND-associated variants than ALS patients (p = 0.0001), however, depending on the panel, up to 11% of people with PLS might benefit from genetic testing. […] On such bases, we advise that the current diagnostic criteria that discourage the use of genetic testing and rely on age of onset should be reconsidered.

• #73 Primary lateral sclerosis (PLS) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-lateral-sclerosis/symptoms-causes/syc-20353968

  Primary lateral sclerosis (PLS) is a type of motor neuron disease. This rare condition can develop at any age, but it usually occurs between ages 40 and 60. PLS is more common in men than in women. Rarely, PLS can begin in early childhood. […] PLS is often mistaken for another, more common motor neuron disease called amyotrophic lateral sclerosis (ALS). In most people, PLS isn’t fatal. […] There are no established environmental risk factors for primary lateral sclerosis. […] It can take as long as 20 years for primary lateral sclerosis to progress and become worse. For most people, adult-onset PLS isn’t thought to shorten life expectancy.

• #74 Primary lateral sclerosis (PLS) | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/primary-lateral-sclerosis-pls

  Primary lateral sclerosis (PLS) is a type of motor neuron disease. This rare condition can develop at any age, but it usually occurs between ages 40 and 60. PLS is more common in men than in women. […] There are no established environmental risk factors for primary lateral sclerosis. […] It can take as long as 20 years for primary lateral sclerosis to progress and become worse. For most people, adult-onset PLS isn’t thought to shorten life expectancy. […] There is no single test that confirms a diagnosis of primary lateral sclerosis (PLS). PLS can have symptoms similar to other neurological diseases such as multiple sclerosis and ALS. […] Sometimes it takes 3 to 4 years before a diagnosis can be made.

• #75 ALS – Wikipedia

  https://en.wikipedia.org/wiki/ALS

  ALS is the most common motor neuron disease in adults and the third most common neurodegenerative disease after Alzheimer’s disease and Parkinson’s disease. Worldwide the number of people who develop ALS yearly is estimated to be 1.9 people per 100,000 per year, while the number of people who have ALS at any given time is estimated to be about 4.5 people per 100,000. In Europe, the number of new cases a year is about 2.6 people per 100,000, while the number affected is 79 people per 100,000. The lifetime risk of developing ALS is 1:350 for European men and 1:400 for European women. Men have a higher risk mainly because spinal-onset ALS is more common in men than women. The number of those with ALS in the United States in 2015 was 5.2 people per 100,000, and was higher in whites, males, and people over 60 years old. The number of new cases is about 0.8 people per 100,000 per year in East Asia and about 0.7 people per 100,000 per year in South Asia. About 80% of ALS epidemiology studies have been conducted in Europe and the United States, mostly in people of northern European descent. There is not enough information to determine the rates of ALS in much of the world, including Africa, parts of Asia, India, Russia, and South America. There are several geographic clusters in the Western Pacific where the prevalence of ALS was reported to be 50-100 times higher than in the rest of the world, including Guam, the Kii Peninsula of Japan, and Western New Guinea. The incidence in these areas has decreased since the 1960s; the cause remains unknown.

• #76 Primary lateral sclerosis – UMC Utrecht

  https://www.umcutrecht.nl/en/primary-lateral-sclerosis

  PLS typically affects people aged 35-65 years. […] PLS occurs sporadically in the majority of affected individuals. Sporadic is the term used for cases of the disease where there is no family history. […] The causes of PLS and related motor neuron diseases ALS and PMA are not known, and research is ongoing.

• #77 Primary lateral sclerosis – UMC Utrecht

  https://www.umcutrecht.nl/en/primary-lateral-sclerosis

  PLS typically affects people aged 35-65 years. […] PLS occurs sporadically in the majority of affected individuals. Sporadic is the term used for cases of the disease where there is no family history. […] The causes of PLS and related motor neuron diseases ALS and PMA are not known, and research is ongoing.

• #78 Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03729-6

  Primary lateral sclerosis (PLS) is an extremely rare condition; therefore, to date no clinical studies have been conducted. […] PLS is rare, occurring in less than 5% of motor neuron diseases; therefore to date, no therapeutic agents or clinical trials have been evaluated. […] The PLSFRS is an essential tool for future international collaborative studies and clinical trials for PLS. […] To develop therapeutic drugs in the future, it will be necessary to work globally, which includes collecting cases; therefore, creating a Japanese version of the PLSFRS is essential. […] The availability of quick and reliable measures that can be administered over the telephone is indispensable for conducting this type of research. […] The Japanese version of the PLSFRS may be a valuable indicator for assessing medical conditions, even when face-to-face assessment is impossible due to disasters or hospital visit burdens.

• #79 Primary lateral sclerosis: consensus diagnostic criteria | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/91/4/373

  Primary lateral sclerosis (PLS) is a neurodegenerative disorder of the adult motor system. Characterised by a slowly progressive upper motor neuron syndrome, the diagnosis is clinical, after exclusion of structural, neurodegenerative and metabolic mimics. […] Current diagnostic criteria for PLS may be a barrier to therapeutic development, requiring long delays between symptom onset and formal diagnosis. […] The clinical imprecision in the diagnosis, along with some uncertainty about overlap with UMN-predominant ALS has become an obstacle to therapeutic development for PLS. […] A revised framework is proposed to facilitate the earlier diagnosis of PLS. […] The diagnosis of PLS requires the presence of symptoms of progressive upper motor neuron (UMN) dysfunction for at least 2 years. […] The classical syndrome of PLS appears to be sporadic and the diagnosis based on clinical features. […] Developments in neuroimaging, neurophysiology and molecular biology have not diminished the long-standing recognition of PLS as a distinct, clinically-defined syndrome.

• #80 Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03729-6

  Primary lateral sclerosis (PLS) is an extremely rare condition; therefore, to date no clinical studies have been conducted. […] PLS is rare, occurring in less than 5% of motor neuron diseases; therefore to date, no therapeutic agents or clinical trials have been evaluated. […] The PLSFRS is an essential tool for future international collaborative studies and clinical trials for PLS. […] To develop therapeutic drugs in the future, it will be necessary to work globally, which includes collecting cases; therefore, creating a Japanese version of the PLSFRS is essential. […] The availability of quick and reliable measures that can be administered over the telephone is indispensable for conducting this type of research. […] The Japanese version of the PLSFRS may be a valuable indicator for assessing medical conditions, even when face-to-face assessment is impossible due to disasters or hospital visit burdens.

• #81 Primary Lateral Sclerosis: An Overview

  https://www.mdpi.com/2077-0383/13/2/578

  There is a general agreement about the fact that PLS is an extremely rare disease, and part of the scientific community still doubts its existence as a unique entity. […] The clinical course is characterized by a progressive motor disability due to muscle spasticity which typically involves lower extremities and bulbar muscles. […] The main knowledge gap is the lack of specific biomarkers to improve the clinical diagnostic accuracy. […] The diagnostic imprecision, together with some uncertainty about overlap with UMN-predominant ALS and Hereditary Spastic Paraplegia (HSP), has become an obstacle to the development of specific therapeutic trials. […] In this narrative review, we provided a comprehensive analysis of the existing literature, including neuropathological, clinical, neuroimaging, and neurophysiological features of the disease, and highlighting the controversies still unsolved in the differential diagnoses and the current diagnostic criteria. […] The most accurate diagnosis possible will, in turn, allow us to study more homogeneous patient samples with a view to obtaining a better pathophysiological interpretation of the disease and, last but not least, to identify possible disease-modifying treatments.

• #82 Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03729-6

  Primary lateral sclerosis (PLS) is an extremely rare condition; therefore, to date no clinical studies have been conducted. […] PLS is rare, occurring in less than 5% of motor neuron diseases; therefore to date, no therapeutic agents or clinical trials have been evaluated. […] The PLSFRS is an essential tool for future international collaborative studies and clinical trials for PLS. […] To develop therapeutic drugs in the future, it will be necessary to work globally, which includes collecting cases; therefore, creating a Japanese version of the PLSFRS is essential. […] The availability of quick and reliable measures that can be administered over the telephone is indispensable for conducting this type of research. […] The Japanese version of the PLSFRS may be a valuable indicator for assessing medical conditions, even when face-to-face assessment is impossible due to disasters or hospital visit burdens.

• #83 PLS Natural History Study (PNHS) | NEALS

  https://neals.org/als-trials/NEALS5827

  The purpose of this study is to improve the current research status of Primary Lateral Sclerosis (PLS) by studying the natural history of the disease to determine how it progresses without any drug treatment. […] The study will investigate natural history of disease by dividing participants into two groups: early PLS (less than 4 years since symptom onset) and well-established PLS (more than 4 but less than 15 years since symptom onset). […] Were hoping that information gained from this project will prepare the research community for future clinical trials in PLS.

• #84 Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03729-6

  This study provides the results for the Japanese version of the PLSFRS intra-rater and inter-rater reliability and an evaluation of the consistency between in-person and telephone interviews. Similar to the ALSFRS-R for amyotrophic lateral sclerosis, we believe that the Japanese version of the PLSFRS will be widely used not only by neurologists but also by internists and medical staff other than doctors and is a well-validated tool for PLS researchers to conduct future clinical trials.

• #85 Primary lateral sclerosis (PLS) | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/primary-lateral-sclerosis-pls?content_id=CON-20197155

  Primary lateral sclerosis (PLS) is a type of motor neuron disease. […] This rare condition can develop at any age, but it usually occurs between ages 40 and 60. PLS is more common in men than in women. […] There are no established environmental risk factors for primary lateral sclerosis. […] It can take as long as 20 years for primary lateral sclerosis to progress and become worse. […] Sometimes it takes 3 to 4 years before a diagnosis can be made. […] There are no treatments to prevent, stop or reverse primary lateral sclerosis.

• #86

  https://www.als.net/news/als-and-pls-two-similar-neurodegenerative-diseases-with-important-differences/

  PLS can appear at any age, although onset usually begins between ages 40 to 60. […] Unlike ALS, in which roughly 15% of diagnosed cases are caused by inherited genetic mutations, all cases of PLS seem to be sporadic, with no known cause. […] There are no effective treatments for PLS other than treating the symptoms with drugs like muscle relaxers and pain relievers, as well as physical and occupational therapy.

• #87 Decreased spasticity in primary lateral sclerosis after botulinum toxin injection: A case report | Neurología (English Edition)

  https://www.elsevier.es/en-revista-neurologia-english-edition–495-articulo-decreased-spasticity-in-primary-lateral-S2173580818300014

  Primary lateral sclerosis (PLS) is a variant of amyotrophic lateral sclerosis (ALS) in which the upper motor neuron and, secondarily, the corticospinal tract degenerate, with no clinical or neurophysiological involvement of the lower motor neuron. Clinically, the disease is characterised by progressive spasticity and poor limb coordination. Prognosis of PLS is significantly better than that of classic ALS, with slower progression and higher survival rates. […] Numerous studies have demonstrated the effectiveness and safety of BTX in treating sialorrhoea in patients with ALS, with no cases describing a global worsening of the disease. […] There is no physiological basis to contraindicate the use of BTX in patients with PLS; there should therefore be no worsening of the disease if the proper dose is administered. […] The improvement in such an important function as gait, and being able to continue partaking in social activities, have afforded our patient a significantly higher quality of life, despite the progression of his condition, which is following the expected course for PLS.

• #88 Coding Primary Lateral Sclerosis – Accuracy Is Vital

  https://www.outsourcestrategies.com/resources/coding-primary-lateral-sclerosis-pls-quality-documentation-vital/

  As the signs and symptoms of PLS often mimic several other neurological disorders like multiple sclerosis and amyotrophic lateral sclerosis (ALS), physicians may conduct a wide range of diagnostic imaging tests to rule out the possibility of other diseases. […] Neurologists offering treatment for this condition may conduct a wide range of diagnostic imaging tests such as – Magnetic resonance imaging (MRI), nerve conduction studies, Electromyogram (EMG), Spinal tap (lumbar puncture) and certain blood tests (to check for infections) to evaluate the symptoms and make a correct diagnosis of the condition. […] Even though there is no cure for primary lateral sclerosis (PLS), there are several lifestyle habits that can be followed to maintain muscle function for as long as possible.

• #89 Primary lateral sclerosis (PLS) | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/primary-lateral-sclerosis-pls?content_id=CON-20197155

  Primary lateral sclerosis (PLS) is a type of motor neuron disease. […] This rare condition can develop at any age, but it usually occurs between ages 40 and 60. PLS is more common in men than in women. […] There are no established environmental risk factors for primary lateral sclerosis. […] It can take as long as 20 years for primary lateral sclerosis to progress and become worse. […] Sometimes it takes 3 to 4 years before a diagnosis can be made. […] There are no treatments to prevent, stop or reverse primary lateral sclerosis.

• #90 My Journey with Primary Lateral Sclerosis (PLS) | Synapticure

  https://www.synapticure.com/blog/my-pls-journey

  Primary lateral sclerosis is a rare, debilitating neurodegenerative illness that is on the spectrum of motor neuron diseases. […] Estimates suggest roughly 400 U.S. citizens have PLS. […] Once a person is diagnosed with probable PLS, there is a waiting period of 4 to 5 years before it is confirmed. […] The average PLS patient is typically denied durable medical equipment, disability benefits, employment accommodations and much more. […] Unfortunately, many in the PLS community dont have neurologists who will do this or who will prescribe drugs off label or make any accommodations whatsoever because on paper it says PLS. […] There are PLS patients who eliminate neurology visits entirely because they receive zero help.

• #91 Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03729-6

  This study provides the results for the Japanese version of the PLSFRS intra-rater and inter-rater reliability and an evaluation of the consistency between in-person and telephone interviews. Similar to the ALSFRS-R for amyotrophic lateral sclerosis, we believe that the Japanese version of the PLSFRS will be widely used not only by neurologists but also by internists and medical staff other than doctors and is a well-validated tool for PLS researchers to conduct future clinical trials.

• #92 Primary Lateral Sclerosis: An Overview

  https://www.mdpi.com/2077-0383/13/2/578

  There is a general agreement about the fact that PLS is an extremely rare disease, and part of the scientific community still doubts its existence as a unique entity. […] The clinical course is characterized by a progressive motor disability due to muscle spasticity which typically involves lower extremities and bulbar muscles. […] The main knowledge gap is the lack of specific biomarkers to improve the clinical diagnostic accuracy. […] The diagnostic imprecision, together with some uncertainty about overlap with UMN-predominant ALS and Hereditary Spastic Paraplegia (HSP), has become an obstacle to the development of specific therapeutic trials. […] In this narrative review, we provided a comprehensive analysis of the existing literature, including neuropathological, clinical, neuroimaging, and neurophysiological features of the disease, and highlighting the controversies still unsolved in the differential diagnoses and the current diagnostic criteria. […] The most accurate diagnosis possible will, in turn, allow us to study more homogeneous patient samples with a view to obtaining a better pathophysiological interpretation of the disease and, last but not least, to identify possible disease-modifying treatments.

• #93 Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts | medRxiv

  https://www.medrxiv.org/content/10.1101/2023.07.19.23292817v1

  Overall PLS patients harboured fewer clinically actionable MND-associated variants than ALS patients (p = 0.0001), however, depending on the panel, up to 11% of people with PLS might benefit from genetic testing. […] On such bases, we advise that the current diagnostic criteria that discourage the use of genetic testing and rely on age of onset should be reconsidered.

• #94 Primary Lateral Sclerosis: An Overview

  https://www.mdpi.com/2077-0383/13/2/578

  There is a general agreement about the fact that PLS is an extremely rare disease, and part of the scientific community still doubts its existence as a unique entity. […] The clinical course is characterized by a progressive motor disability due to muscle spasticity which typically involves lower extremities and bulbar muscles. […] The main knowledge gap is the lack of specific biomarkers to improve the clinical diagnostic accuracy. […] The diagnostic imprecision, together with some uncertainty about overlap with UMN-predominant ALS and Hereditary Spastic Paraplegia (HSP), has become an obstacle to the development of specific therapeutic trials. […] In this narrative review, we provided a comprehensive analysis of the existing literature, including neuropathological, clinical, neuroimaging, and neurophysiological features of the disease, and highlighting the controversies still unsolved in the differential diagnoses and the current diagnostic criteria. […] The most accurate diagnosis possible will, in turn, allow us to study more homogeneous patient samples with a view to obtaining a better pathophysiological interpretation of the disease and, last but not least, to identify possible disease-modifying treatments.

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