Materiały źródłowe

• #1 Epidemiology of Progressive Supranuclear Palsy: Real World Data from the Second Largest Health Plan in Israel

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9496895/

  Progressive supranuclear palsy (PSP) is a rare and fatal neurodegenerative movement disorder and no disease modifying therapy (DMT) is currently available. This study aims to assess the epidemiology of PSP in Israel and to describe its clinical features. […] The 2018 prevalence and incidence rates were 5.3 and 1 per 100,000 persons, respectively. […] The present study demonstrates that the clinic-epidemiological features of PSP in Israel are similar to PSP worldwide. […] To the best of our knowledge, in Israel, there are no publications that describe the epidemiology and clinical features of PSP. Therefore, this study aims to assess the prevalence and incidence of PSP in Israel and to describe the clinical features of the disease, including initial symptoms, common misdiagnoses, survival time and treatment patterns.

• #1 Environmental Risk Factors for Progressive Supranuclear Palsy

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.20173

  PSP prevalence estimates have increased from 1.39/100,000 to 17.9/100,000 over the past several decades. […] The incidence of PSP is 0.9-1.9/100,000, increasing after the age of 60 years. […] Intriguingly, geographical clusters have been reported in PSP, highlighting the potential contribution of environmental factors in PSP. […] A higher prevalence of PSP was found in men than in women in other recent studies. […] A male preponderance, in which males account for 68-72% of PSP patients, was also shown in Guadeloupe, a location of a geographical cluster of PSP. […] The ENGENE-PSP study confirmed a modest association between a history of hypertension (10 years before PSP symptom onset) and PSP. […] The findings of this study implicated that chronic hypertension itself might play a role in the development of PSP.

• #1 Epidemiology of Progressive Supranuclear Palsy: Real World Data from the Second Largest Health Plan in Israel

  https://www.mdpi.com/2076-3425/12/9/1126

  Progressive supranuclear palsy (PSP) is a rare neurodegenerative movement disorder, with an estimated annual prevalence of 5–7 per 100,000 persons and annual incidence density rate between 0.9 and 2.6 per 100,000 persons, which both increase with age. […] The present study estimated the 2018 crude prevalence rate as 5.3 per 100,000 MHS members over the age of 40. […] The crude (over the age of 40 years) and age-adjusted incidence rates for 2018 were 1 per 100,000 MHS members and 0.29 per 100,000 persons, respectively. […] The median survival time was 4.9 years (95% CI 3.6–6.1) post diagnosis and 23 patients (19.8%, 95% CI: 13.3–27.8%) of patients had overall survival rates of more than 10 years. […] This real-world descriptive analysis, to the best of our knowledge, is the first in Israel and one of few in the world to delineate PSP’s epidemiology and its clinical features.

• #1 The prevalence and incidence of progressive supranuclear palsy and corticobasal syndrome: a systematic review and meta-analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10421779/

  Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are progressive neurodegenerative syndromes characterised by Parkinsonism with additional features including cognitive dysfunction, falls, and oculomotor abnormalities. Understanding the epidemiology of these conditions is critical to planning for future service provision. […] We found 32 studies meeting our criteria for inclusion. There were 20 studies with data on prevalence and 12 with incidence data of PSP. Prevalence of CBS was reported in eight studies while seven studies reported incidence. Reported estimates of prevalence for PSP ranged from 1.00 (0.91.1) to 18 (828) per 100,000 while prevalence rates for CBS ranged from 0.83 (0.13.0) to 25 (059). Incidence rates for PSP and CBS respectively ranged from 0.16 (0.070.39) to 2.6 per 100,000 person-years and 0.03 (00.18) to 0.8 (0.41.3) per 100,000 person-years. A random effects model meta-analysis of studies with similar methodologies yielded a pooled prevalence estimate for PSP of 6.92 (4.3311.06, I2=89%, 2=0.3907) and 3.91 (2.037.51, I2=72%, 2=0.2573) per 100,000 for CBS.

• #1 Epidemiology of Progressive Supranuclear Palsy: Real World Data from the Second Largest Health Plan in Israel

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9496895/

  The crude (over the age of 40 years) and the age-adjusted prevalence rates in 2018 were 5.3 per 100,000 MHS members and 1.6 per 100,000 persons, respectively. […] The crude (over the age of 40 years) and age-adjusted incidence rates for 2018 were 1 per 100,000 MHS members and 0.29 per 100,000 persons, respectively. […] The estimated incidence rate of PSP in the current analysis is in line with most previous reports, where the rates vary from 0.9 to 2.6 per 100,000 persons per year. […] The present study found a median survival time of 4.9 years. […] This real-world descriptive analysis, to the best of our knowledge, is the first in Israel and one of few in the world to delineate PSP’s epidemiology and its clinical features.

• #1 Progressive Supranuclear Palsy: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1151430-overview

  A population-based study in New Jersey by Golbe et al revealed an overall prevalence of 1.39 cases per 100,000 population. The male prevalence was 1.53 in 100,000, whereas the female prevalence was 1.23 in 100,000; this finding was in accordance with a previously noted slight male preponderance. The adjusted prevalence ratio among patients older than 55 years was 7 in 100,000. […] Prevalence data derived from tertiary centers suggest that PSP affects 4-6% of patients with parkinsonism. […] The incidence of PSP has been assessed in Perth, Australia; crude incidence rates are 3-4 per million cases per year, approximately 5% of the incidence of Parkinson disease. […] The mean age at onset is approximately 63 years (range, 44-75 years). […] The median interval between onset and diagnosis is 3 years (range, 0.5-9 years). PSP has a slight male predominance in most studies. According to Kristensen, the male-to-female ratio is 1.5:1. […] Most reported cases have been in whites. The affected cohort in Golbes study consisted entirely of white persons; however, the survey population included only 5.7% black individuals, thus preventing any meaningful analysis regarding race.

• #1

  https://www.nhs.uk/conditions/progressive-supranuclear-palsy-psp/

  Progressive supranuclear palsy (PSP) is a rare neurological condition that can cause problems with balance, movement, vision, speech and swallowing. […] The PSP Association estimates there are around 4,000 people with PSP living in the UK. […] But it’s thought the true figure could be much higher as many cases may be misdiagnosed. […] Most cases of PSP develop in people who are over the age of 60.

• #1

  https://www.psp.org/iwanttolearn/progressive-supranuclear-palsy

  Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder that has no known cause or cure. […] PSP is slightly more common in men than women, but it has no known geographical, occupational, or racial preference. […] PSP is considered rare, affecting 6-10 individuals per 100,000, with about 30,000 cases in the United States. These numbers are likely underestimates due to frequent misdiagnosis of Parkinsons disease or frontotemporal dementia. […] More than 50% of people with PSP are initially misdiagnosed with Parkinsons disease. […] Receiving a PSP diagnosis can be challenging and frustrating. Even for those not initially misdiagnosed, the process can be lengthy because many healthcare providers are unfamiliar with the disease. As a result, it can take a long time for people to receive an accurate diagnosis. […] It is common to have initially received a diagnosis of Parkinsons disease because of the similarities in early symptoms.

• #1 The prevalence and incidence of progressive supranuclear palsy and corticobasal syndrome: a systematic review and meta-analysis | springermedizin.de

  https://www.springermedizin.de/the-prevalence-and-incidence-of-progressive-supranuclear-palsy-a/25463522

  Studies of the epidemiology of PSP and CBS report highly heterogeneous findings. There is a need for further studies using rigorous phenotyping and the most recent diagnostic criteria to understand the true burden of these conditions. […] Prevalence data on PSP and/or CBS was reported in 23 studies. This included 20 papers and three conference abstracts. […] Reported estimates of population prevalence ranged from 1.00 (0.91.1) to 18 (828) per 100,000. […] Meta-analysis of nine studies yielded a pooled prevalence estimate of 6.92 (4.3311.06) per 100,000, with a high degree of heterogeneity (I2=89%, 2=0.3907, P0.01). […] The incidence of PSP/CBS was reported in 12 studies (PSP only n=5, PSP and CBS n=7, no studies with CBS alone), including 11 papers and one abstract. […] Reported incidence rates for PSP ranged from 0.3 to 2.6 per 100,000 person-years. […] Meta-analysis of eight studies yielded a pooled incidence of 0.81 per 100,000 person-years (0.481.37, I2=86%, 2=0.4847, p0.01). […] The incidence of CBS ranged from 0.03 [14] to 0.8 per 100,000 person-years [18].

• #1 Environmental Risk Factors for Progressive Supranuclear Palsy

  https://www.e-jmd.org/journal/view.php?number=346

  PSP prevalence estimates have increased from 1.39/100,000 to 17.9/100,000 over the past several decades. […] The incidence of PSP is 0.9-1.9/100,000, increasing after the age of 60 years. […] Intriguingly, geographical clusters have been reported in PSP, highlighting the potential contribution of environmental factors in PSP. […] A higher prevalence of PSP was found in men than in women in other recent studies. […] A male preponderance, in which males account for 68-72% of PSP patients, was also shown in Guadeloupe, a location of a geographical cluster of PSP. […] Sex differences in the incidence of PSP were reported, showing a 1.1-1.3/100,000 incidence of PSP in men and a 0.6-0.9/100,000 incidence in women. […] The ENGENE-PSP study confirmed a modest association between a history of hypertension (10 years before PSP symptom onset) and PSP.

• #1 Epidemiology of Progressive Supranuclear Palsy: Real World Data from the Second Largest Health Plan in Israel

  https://ouci.dntb.gov.ua/en/works/9jqJBMql/

  Epidemiology of Progressive Supranuclear Palsy: Real World Data from the Second Largest Health Plan in Israel […] Progressive supranuclear palsy (PSP) is a rare and fatal neurodegenerative movement disorder and no disease modifying therapy (DMT) is currently available. This study aims to assess the epidemiology of PSP in Israel and to describe its clinical features. This retrospective analysis identified patients with PSP between 2000 and 2018 over the age of 40 years at first diagnosis (index date). We identified 209 patients with ≥1 diagnosis of PSP. Of those, 88 patients satisfied the inclusion criteria with a mean age at diagnosis of 72 years (SD = 8) and 53% were female. The 2018 prevalence and incidence rates were 5.3 and 1 per 100,000 persons, respectively. Median survival time was 4.9 years (95% CI 3.6–6.1) and median time from initial symptom to diagnosis was 4.2 years. The most common misdiagnoses were Parkinson’s disease, cognitive disorder and depression. The present study demonstrates that the clinic-epidemiological features of PSP in Israel are similar to PSP worldwide. In light of PSP’s rarity, investigation of PSP cohorts in different countries may create a proper platform for upcoming DMT trials. […]

• #1 Progressive supranuclear palsy | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/progressive-supranuclear-palsy-1?embed_domain=external.radpair.com%2525252525252525252527%252525252525252525255B0%252525252525252525255Dfavicon.ico&lang=us

  Progressive supranuclear palsy typically becomes clinically apparent in the 6th decade of life and progresses to death usually within a decade (2-17 years from diagnosis). […] Progressive supranuclear palsy is characterized by decreased cognition, abnormal eye movements (supranuclear vertical gaze palsy), postural instability and falls, as well as Parkinsonian features and speech disturbances.

• #1 Orphanet: Progressive supranuclear palsy

  https://www.orpha.net/en/disease/detail/683

  A rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction. […] Estimates of prevalence of progressive supranuclear palsy (PSP) range between 1/13,000-34,000. It mainly affects adults older than 50 years of age. […] Progressive, patients become wheel-chair dependent due to the frequent falls. Difficulties in breathing and swallowing, and infections are the main causes of death, generally 6-12 years after onset of the disease.

• #1 Progressive Supranuclear Palsy (PSP): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/6096-progressive-supranuclear-palsy

  PSP is rare. Around 5 people out of every 100,000 have it. About 1 per 100,000 people get diagnosed each year. […] The main risk factor for PSP is age. Your risk for developing PSP increases as you age if you’re 60 or older. The condition is slightly more common in males. […] The prognosis (outlook) for progressive supranuclear palsy (PSP) is generally poor. The symptoms worsen with time, and there currently isn’t treatment that can reverse or stop PSP. However, the sooner you receive a diagnosis and start a treatment plan, the better your quality of life will be.

• #1 Progressive Supranuclear Palsy in 2022: recent developments and an eye to the future | ACNR

  https://acnr.co.uk/articles/progressive-supranuclear-palsy-in-2022-recent-developments-and-an-eye-to-the-future/

  While genome wide association studies (GWAS) have identified several risk loci for PSP. […] Studies of geographical clusters of PSP have helped to identify several environmental risk factors. […] A PSP-like parkinsonian syndrome identified in Guadeloupe has been associated the consumption annonaceae fruit which contain annonacin, mitochondrial complex I inhibitor, which has been shown to increase 4R tau isoforms in cultured neurons. […] Hypertension, lower levels of education, and rural living are some of the other potential risk factors which have been investigated.

• #1 Progressive supranuclear palsy: An update – Medical Independent

  https://www.medicalindependent.ie/clinical-news/neurology/progressive-supranuclear-palsy-an-update/

  The mean age of onset of PSP is 63 years and progresses to death over approximately seven years, although some subtypes follow a slower course. Estimates of PSP prevalence vary considerably with rates of five-to-six per 100,000 commonly quoted. Estimates of the annual incidence of PSP range from 0.9-to-1.9 per 100,000. […] PSP is typically a sporadic disorder, however, familial cases related to mutations in the MAPT gene as well as a handful of cases related to LRRK2 mutations have been identified, while genome-wide association studies have identified several risk loci of PSP. […] Environmental risk factors have been identified related to geographic clusters of PSP. A PSP-like Parkinsonism identified in Guadeloupe has been associated with mitochondrial toxins in annonaceae fruit, while a high rate in an industrial region of northern France appears to relate to exposures to industrial metals.

• #1 Environmental Risk Factors for Progressive Supranuclear Palsy

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.20173

  The use of beta blockers showed an association with PSP, while other drugs did not show any association with PSP in the univariate analysis of the ENGENE-PSP study. […] This extensive literature review about environmental and modifiable factors in PSP shows that specific dietary habits, such as high consumption of Annonaceae family fruits, metal/chemical exposure, hypertension, and stress, are risk factors for PSP. High educational level and statin use may be protective.

• #1 Progressive Supranuclear Palsy in 2022: recent developments and an eye to the future | ACNR

  https://acnr.co.uk/articles/progressive-supranuclear-palsy-in-2022-recent-developments-and-an-eye-to-the-future/

  Progressive supranuclear palsy (PSP) is an uncommon, progressive, neurodegenerative condition which classically presents with eye movement abnormalities, axial rigidity, early falls and cognitive impairment. […] Estimates of PSP prevalence vary considerably with rates of 5-6 per 100,000 commonly quoted, although a recent study of Yonago City, Japan reported a prevalence as high as 17.9 per 100,000. […] Estimates of the annual incidence of PSP range from 0.9-1.9 per 100,000. […] Data from the UK Biobank, a large prospective cohort study of more than 500,000 people, has been used to study potential pre-diagnostic features of PSP. […] PSP is typically a sporadic disorder, however, familial cases related to mutations in the MAPT gene as well as cases related to LRRK2 mutations have been identified.

• #1 Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes | Nature Communications

  https://www.nature.com/articles/s41467-024-52025-x

  Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by problems with movement, balance, and cognition. […] PSP is estimated to affect 517 per 100,000 persons in the US, making it the second leading cause of Parkinsonism after PD, and autopsy studies have found PSP pathology in 26% of individuals with no PSP neurological diagnosis prior to death, suggesting that it is more prevalent than appreciated in living individuals. […] Key insights into PSP have come from decades of genetic studies which have demonstrated the disorder to be almost entirely sporadic disease, however careful clinical evaluation has revealed a tendency for family clustering. […] While the chromosome 17q21.31 H1/H2 haplotype, an approximately 900 kbp inversion polymorphism encompassing the gene encoding the tau protein MAPT, remains the strongest known genetic risk factor for PSP (OR5.5), loci containing variants with more modest effects have also been identified.

• #1 Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes | Nature Communications

  https://www.nature.com/articles/s41467-024-52025-x

  These loci help resolve only a portion of PSP heritability, and much of the genetic risk remains unexplained. […] Here we perform the largest genetic association study of PSP to date, including 2779 cases (of which 2595 were autopsy-confirmed, building upon the 1069 autopsy confirmed cases from stage 1 of work from 2011) and 5584 age-matched, non-demented, autopsy-confirmed controls derived from the Alzheimer Disease Genetics Consortium. […] Our study uncovered a novel genetic signal at C4A which encodes the acidic form of complement factor 4, part of the classical activation pathway. […] A significant locus in the HLA region near C4A has also been identified in a GWAS of ALS, which is hypothesized to be a distal (dying-back) axonopathy, suggesting the possibility that axon-myelin interactions might contribute to and link these disorders. […] In summary, this study identified six independent susceptibility loci including a novel locus at 6p21.32 associated with PSP, a neurodegenerative disease characterized by movement, cognitive, and behavioral impairments.

• #1

  https://link.springer.com/article/10.1007/s00415-023-11791-2

  Studies of the epidemiology of PSP and CBS report highly heterogeneous findings. There is a need for further studies using rigorous phenotyping and the most recent diagnostic criteria to understand the true burden of these conditions. […] Epidemiological data on CBS and PSP are limited due to the relative rarity of the conditions; their protean presentation and the degree of pathological heterogeneity which they exhibit. However, an accurate understanding of the burden of disease is important for planning of medical services, provision of care, and the administration of disease modifying treatments. […] Prevalence data on PSP and/or CBS was reported in 23 studies. This included 20 papers and three conference abstracts. 15 studies reported prevalence data on PSP only, three reported on CBS only, and five reported data on both PSP and CBS.

• #1 Progressive Supranuclear Palsy | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/progressive-supranuclear-palsy

  Progressive supranuclear palsy (PSP) is a rare brain disorder that causes dementia and problems with walking and balance. About 20,000 Americans or one in every 100,000 people over age 60 have PSP. […] Patients tend to be middle-age or elderly. Men are affected more often than women. […] The disease can be difficult to diagnose because it’s rare and sometimes mistaken for Parkinson’s disease. […] An early diagnosis of progressive supranuclear palsy (PSP) is difficult because initial complaints typically are vague. PSP often is misdiagnosed because some symptoms are very much like those of Parkinson’s disease, Alzheimer’s disease and more rare neuro-degenerative disorders, such as Creutzfeldt-Jakob disease. […] A thorough evaluation is important to diagnosis PSP. This involves an interview with you and another person such as a spouse, relative or close friend to provide examples of behavior and daily activities, physical testing for mobility and vision, and neuropsychological testing for evaluation of thinking and reasoning.

• #1 Epidemiology of Progessive Supranuclear Palsy and Multiple System Atrophy | SpringerLink

  https://link.springer.com/chapter/10.1385/1-59259-834-x:023

  Epidemiology seeks to prevent disease by identifying risk factors, be they genetic and/or environmental, that are of etiological relevance through the use of descriptive studies, natural experiments, and very occasionally randomized trials. […] This chapter will focus on descriptive studies that have either measured disease frequency (prevalence or incidence) or estimated the risk associated with environmental exposures. […] For any uncommon disease, undertaking epidemiological studies presents several major challenges: case identification, representativeness of cases, and obtaining adequate sample sizes. […] For both PSP and MSA, there are additional problems as both these conditions can be difficult to diagnose. […] As there are no adequate tests that are both highly sensitive and specific, the gold standard remains the diagnostic expertise of a movement disorders specialist.

• #1

  https://link.springer.com/article/10.1007/s00415-023-11791-2

  Reported incidence rates for PSP ranged from 0.3 to 2.6 per 100,000 person-years […] The incidence of CBS ranged from 0.03 to 0.8 per 100,000 person-years. […] A true and reliable description of the epidemiology of PSP and CBS remains elusive. This study reviews and synthesises existing data on the prevalence and incidence of these disorders, but significant challenges remain. Estimates of prevalence and incidence confirm that PSP and CBS are uncommon conditions but there is a high degree of heterogeneity in the existing literature. […] There is a need for further epidemiological studies, adequately powered to assess the epidemiology of rare diseases, with robust methods of clinical assessment using the most recent diagnostic criteria.

• #1 Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03168-z

  Real-world data (RWD), which are collected outside of a clinical trial, present an alternative approach to conducting research into rare diseases. […] To bridge the current gap in understanding PSP progression and management across the full patient journey and spectrum of healthcare settings, this study leveraged data from medical records collected from multiple healthcare centers at which individuals with PSP or their legally authorized representatives reported receiving care. […] The key aims of this study were 1) to use novel methods of patient recruitment and engagement to establish a recontactable cohort of research participants with PSP from across the US and Canada and 2) to conduct a retrospective observational study within this cohort to build upon the literature on PSP disease characteristics, including symptoms, comorbidities, and healthcare resource utilization (HRU).

• #1 Epidemiology of Progressive Supranuclear Palsy: Real World Data from the Second Largest Health Plan in Israel

  https://ouci.dntb.gov.ua/en/works/9jqJBMql/

  We found 32 studies meeting our criteria for inclusion. There were 20 studies with data on prevalence and 12 with incidence data of PSP. Prevalence of CBS was reported in eight studies while seven studies reported incidence. Reported estimates of prevalence for PSP ranged from 1.00 (0.9–1.1) to 18 (8–28) per 100,000 while prevalence rates for CBS ranged from 0.83 (0.1–3.0) to 25 (0–59). Incidence rates for PSP and CBS respectively ranged from 0.16 (0.07–0.39) to 2.6 per 100,000 person-years and 0.03 (0–0.18) to 0.8 (0.4–1.3) per 100,000 person-years. A random effects model meta-analysis of studies with similar methodologies yielded a pooled prevalence estimate for PSP of 6.92 (4.33–11.06, I2 = 89%, χ2 = 0.3907) and 3.91 (2.03–7.51, I2 = 72%, χ2 = 0.2573) per 100,000 for CBS. […] […] This retrospective study adds to the current understanding of PSP symptoms, comorbidities, and healthcare resource utilization (HRU) across the disease journey. By involving individuals with PSP and their caregivers or legally authorized representatives in the research process, this study was unique in its approach to participant recruitment and enabled individuals to participate in research without the need for travel. We collected medical documents from multiple healthcare centers, allowing for broad data collection covering the entire disease journey. This approach to the collection of real-world data may be used to generate valuable insights into many aspects of disease progression and management in PSP and many other rare diseases.

• #1 Progressive supranuclear palsy: An update – Medical Independent

  https://www.medicalindependent.ie/clinical-news/neurology/progressive-supranuclear-palsy-an-update/

  To tackle the lack of epidemiological data on PSP in Ireland, an Irish multicentre epidemiological study, The Leinster Tauopathy Study, is in preparation and hopes to begin recruiting participants in early 2022. The study aims to establish the prevalence and incidence of PSP and CBS in an Irish population and plans to establish a biobank of blood, DNA, and cerebrospinal fluid samples to facilitate future studies of diagnostic and prognostic biomarkers. Developing an accurate picture of the population with tauopathies and their needs will help to inform future service provision.

• #1 Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03168-z

  Medications, imaging, assistive devices, supportive care, and surgeries and procedures were the most widely utilized healthcare resources, each of which was used by at least 85% of participants at some point during the disease course. […] This study adds to these findings by characterizing changes in HRU after individuals receive a diagnosis, including an increase in the utilization of assistive devices and supportive care that would be challenging to assess in claims or EHR databases. […] This novel retrospective study adds to our current knowledge and understanding of PSP symptoms, comorbidities, and HRU across the disease journey.

• #1 A Descriptive Pilot Study of Emergency Department Usage in Progressive Supranuclear Palsy, and a Literature Review of the Pathophysiology and Epidemiology of the Disease – D-Scholarship@Pitt

  http://d-scholarship.pitt.edu/42793/

  Progressive nuclear palsy (PSP) is a lethal neurodegenerative disease, characterized by the deposition of 4-repeat (4R)-Tau in the brain. […] Public health efforts to reduce the morbidity and mortality of this disease are currently undermined by our limited understanding of the disease and its pathogenesis. […] While information on healthcare resource utilization and the economic impact of PSP is generally lacking, the sparse data that exists suggests that patients with PSP utilize the emergency department (ED) an inordinate amount. […] The overall aim of this pilot study was to describe the usage of the ED by patients with PSP, to better characterize the impact of specific causes of morbidity in the disease. […] Increased knowledge of how and why the ED is used in PSP could improve public health efforts targeted at reducing morbidity by highlighting where better preventative measures need to be developed. […] Our findings suggest that falls are indeed the most common and significant reason that PSP patients seek emergency medical care.

• #1 Progressive supranuclear palsy (PSP) – Epidemiology Forecast-2032

  https://www.researchandmarkets.com/reports/5525340/progressive-supranuclear-palsy-psp?srsltid=AfmBOoqvmi2A3gTuuh69hrB3g_VXCemYyXl_8vLzBJtOQ-0FOc6HuI–

  This „Progressive supranuclear palsy (PSP) – Epidemiology Forecast to 2032” report delivers an in-depth understanding of the disease, historical and forecasted Progressive supranuclear palsy (PSP) epidemiology in the 7MM, i.e., the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan. […] The Progressive supranuclear palsy (PSP) epidemiology report gives a thorough understanding of the Progressive supranuclear palsy (PSP) by including details such as disease definition, symptoms, causes, pathophysiology, and diagnosis. […] The Progressive supranuclear palsy (PSP) epidemiology division provides insights about historical and current patient pool and forecasted trend for every seven major countries. […] The Progressive supranuclear palsy (PSP) epidemiology segment covers the epidemiology data in the US, EU5 countries (Germany, Spain, Italy, France, and the UK), and Japan from 2019 to 2032.

• #1 Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03168-z

  Progressive supranuclear palsy (PSP) is a rare neurodegenerative brain disease with rapid progression and currently limited treatment options. A comprehensive understanding of disease progression, management, and healthcare resource utilization is limited, and further research is challenging due to the small population of patients. […] This retrospective study adds to the current understanding of PSP symptoms, comorbidities, and healthcare resource utilization (HRU) across the disease journey. […] Understanding disease progression is a concern for patients, caregivers, and physicians, especially given the lack of disease-modifying treatments. […] Recruitment for research studies in PSP presents additional challenges due to the older age at PSP diagnosis and the rapid progression of the disease.

• #1 Progressive Supranuclear Palsy (PSP) Information Page » Norman Fixel Institute for Neurological Diseases » University of Florida

  https://fixel.ufhealth.org/getting-care/centers-of-excellence/progressive-supranuclear-palsy-atypical-parkinsonism-center-of-excellence/progressive-supranuclear-palsy-psp-information-page/

  Clinical testing of blood or other tissues (such as cerebral spinal fluid, CSF) for PSP is generally not done. […] So far the search for useful biomarkers in blood or CSF has not yielded a reliable test for PSP, but is a subject of active research. […] Biomarkers are also actively being explored to help with diagnosing PSP and distinguish it from other Parkinsonian disorders. […] Although so far no one biomarker has been identified for PSP, it may be that set of molecules (molecular fingerprint) will be needed to accurately detect or predict disease.

• #1 Clinical Features of Patients With Progressive Supranuclear Palsy in an US Insurance Claims Database

  https://escholarship.org/uc/item/1mv2s3ch

  Background: Progressive supranuclear palsy is a rare neurodegenerative movement disorder and little is known about its epidemiology. […] Objective: Estimate age-adjusted prevalence of progressive supranuclear palsy and describe antecedent diagnoses and progressive supranuclear palsy patient features in the 5 years before first diagnostic code. […] Results: Age-adjusted progressive supranuclear palsy prevalence was 2.95/100,000 in 2016. […] In this large database analysis, based on preliminary analyses, the prevalence of diagnosed progressive supranuclear palsy was 2.95/100,000, which is lower than many prior studies. […] The identification of diagnostic codes for clinical features of progressive supranuclear palsy that occurred before index date may be used to develop predictive models to identify potential progressive supranuclear palsy patients earlier in their disease course.

• #1 Progressive Supranuclear Palsy (PSP) | Amylyx

  https://www.amylyx.com/progressive-supranuclear-palsy

  Progressive supranuclear palsy (PSP) is a sporadic, rare, fatal neurodegenerative disease that can affect movement, gait, balance, cognition, eye movements, swallowing, and speech. People living with PSP have a life expectancy of six to eight years after symptom onset. […] PSP affects approximately seven in 100,000 people worldwide, and there are currently no disease-modifying therapies approved for the treatment of PSP. We initiated ORION (NCT06122662), a global, randomized, double-blinded, placebo-controlled Phase 2b/3 clinical trial to assess the efficacy, safety, and tolerability of AMX0035 compared to placebo in people living with PSP. Data from an unblinded analysis of the Phase 2b portion of our ORION trial in PSP are expected in Q3 2025.

• #2

  https://link.springer.com/article/10.1007/s00415-023-11791-2

  Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are progressive neurodegenerative syndromes characterised by Parkinsonism with additional features including cognitive dysfunction, falls, and oculomotor abnormalities. Understanding the epidemiology of these conditions is critical to planning for future service provision. […] We found 32 studies meeting our criteria for inclusion. There were 20 studies with data on prevalence and 12 with incidence data of PSP. Prevalence of CBS was reported in eight studies while seven studies reported incidence. Reported estimates of prevalence for PSP ranged from 1.00 (0.91.1) to 18 (828) per 100,000 while prevalence rates for CBS ranged from 0.83 (0.13.0) to 25 (059). Incidence rates for PSP and CBS respectively ranged from 0.16 (0.070.39) to 2.6 per 100,000 person-years and 0.03 (00.18) to 0.8 (0.41.3) per 100,000 person-years. A random effects model meta-analysis of studies with similar methodologies yielded a pooled prevalence estimate for PSP of 6.92 (4.3311.06, I2=89%, 2=0.3907) and 3.91 (2.037.51, I2=72%, 2=0.2573) per 100,000 for CBS.

• #2 Environmental Risk Factors for Progressive Supranuclear Palsy

  https://www.e-jmd.org/journal/view.php?number=346

  PSP prevalence estimates have increased from 1.39/100,000 to 17.9/100,000 over the past several decades. […] The incidence of PSP is 0.9-1.9/100,000, increasing after the age of 60 years. […] Intriguingly, geographical clusters have been reported in PSP, highlighting the potential contribution of environmental factors in PSP. […] A higher prevalence of PSP was found in men than in women in other recent studies. […] A male preponderance, in which males account for 68-72% of PSP patients, was also shown in Guadeloupe, a location of a geographical cluster of PSP. […] Sex differences in the incidence of PSP were reported, showing a 1.1-1.3/100,000 incidence of PSP in men and a 0.6-0.9/100,000 incidence in women. […] The ENGENE-PSP study confirmed a modest association between a history of hypertension (10 years before PSP symptom onset) and PSP.

• #2 Progressive supranuclear palsy (PSP): Clinical features and diagnosis – UpToDate

  https://www.uptodate.com/contents/progressive-supranuclear-palsy-psp-clinical-features-and-diagnosis/print

  Progressive supranuclear palsy (PSP) is a rare age-related neurodegenerative disorder and one of several atypical parkinsonian disorders that feature prominently in the differential diagnosis of Parkinson disease (PD). […] PSP is one of the most common degenerative forms of atypical parkinsonism, with an estimated prevalence of 5 to 7.1 per 100,000 person-years. […] It is approximately two to three times more prevalent than corticobasal degeneration (CBD) and multiple system atrophy (MSA) but approximately ten times less common than Parkinson disease (PD). […] Males and females are affected in equal proportions.

• #2 The prevalence and incidence of progressive supranuclear palsy and corticobasal syndrome: a systematic review and meta-analysis | springermedizin.de

  https://www.springermedizin.de/the-prevalence-and-incidence-of-progressive-supranuclear-palsy-a/25463522

  Studies of the epidemiology of PSP and CBS report highly heterogeneous findings. There is a need for further studies using rigorous phenotyping and the most recent diagnostic criteria to understand the true burden of these conditions. […] Prevalence data on PSP and/or CBS was reported in 23 studies. This included 20 papers and three conference abstracts. […] Reported estimates of population prevalence ranged from 1.00 (0.91.1) to 18 (828) per 100,000. […] Meta-analysis of nine studies yielded a pooled prevalence estimate of 6.92 (4.3311.06) per 100,000, with a high degree of heterogeneity (I2=89%, 2=0.3907, P0.01). […] The incidence of PSP/CBS was reported in 12 studies (PSP only n=5, PSP and CBS n=7, no studies with CBS alone), including 11 papers and one abstract. […] Reported incidence rates for PSP ranged from 0.3 to 2.6 per 100,000 person-years. […] Meta-analysis of eight studies yielded a pooled incidence of 0.81 per 100,000 person-years (0.481.37, I2=86%, 2=0.4847, p0.01). […] The incidence of CBS ranged from 0.03 [14] to 0.8 per 100,000 person-years [18].

• #2 Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes | Nature Communications

  https://www.nature.com/articles/s41467-024-52025-x

  Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by problems with movement, balance, and cognition. […] PSP is estimated to affect 517 per 100,000 persons in the US, making it the second leading cause of Parkinsonism after PD, and autopsy studies have found PSP pathology in 26% of individuals with no PSP neurological diagnosis prior to death, suggesting that it is more prevalent than appreciated in living individuals. […] Key insights into PSP have come from decades of genetic studies which have demonstrated the disorder to be almost entirely sporadic disease, however careful clinical evaluation has revealed a tendency for family clustering. […] While the chromosome 17q21.31 H1/H2 haplotype, an approximately 900 kbp inversion polymorphism encompassing the gene encoding the tau protein MAPT, remains the strongest known genetic risk factor for PSP (OR5.5), loci containing variants with more modest effects have also been identified.

• #2 Environmental Risk Factors for Progressive Supranuclear Palsy

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.20173

  PSP prevalence estimates have increased from 1.39/100,000 to 17.9/100,000 over the past several decades. […] The incidence of PSP is 0.9-1.9/100,000, increasing after the age of 60 years. […] Intriguingly, geographical clusters have been reported in PSP, highlighting the potential contribution of environmental factors in PSP. […] A higher prevalence of PSP was found in men than in women in other recent studies. […] A male preponderance, in which males account for 68-72% of PSP patients, was also shown in Guadeloupe, a location of a geographical cluster of PSP. […] The ENGENE-PSP study confirmed a modest association between a history of hypertension (10 years before PSP symptom onset) and PSP. […] The findings of this study implicated that chronic hypertension itself might play a role in the development of PSP.

• #2 Epidemiology of Progressive Supranuclear Palsy: Real World Data from the Second Largest Health Plan in Israel

  https://www.mdpi.com/2076-3425/12/9/1126

  Progressive supranuclear palsy (PSP) is a rare neurodegenerative movement disorder, with an estimated annual prevalence of 5–7 per 100,000 persons and annual incidence density rate between 0.9 and 2.6 per 100,000 persons, which both increase with age. […] The present study estimated the 2018 crude prevalence rate as 5.3 per 100,000 MHS members over the age of 40. […] The crude (over the age of 40 years) and age-adjusted incidence rates for 2018 were 1 per 100,000 MHS members and 0.29 per 100,000 persons, respectively. […] The median survival time was 4.9 years (95% CI 3.6–6.1) post diagnosis and 23 patients (19.8%, 95% CI: 13.3–27.8%) of patients had overall survival rates of more than 10 years. […] This real-world descriptive analysis, to the best of our knowledge, is the first in Israel and one of few in the world to delineate PSP’s epidemiology and its clinical features.

• #2 Progressive Supranuclear Palsy (PSP) Information Page » Norman Fixel Institute for Neurological Diseases » University of Florida

  https://fixel.ufhealth.org/getting-care/centers-of-excellence/progressive-supranuclear-palsy-atypical-parkinsonism-center-of-excellence/progressive-supranuclear-palsy-psp-information-page/

  However, PSP is likely both underdiagnosed or misdiagnosed because the symptoms overlap those of other neurological disorders such as Parkinson disease and amyotrophic lateral sclerosis (ALS, or Lou Gehrigs disease). […] Average age of onset is in the early 60s and ranges from 40 to 80 years. […] Progression of symptoms is typically more rapid than in Parkinson disease, and poor response to medications such as levodopa can be supportive of the diagnosis but not necessarily diagnostic. […] One of the most helpful tests is brain MRI (magnetic resonance imaging). […] Shrinkage or atrophy of the midbrain (top of the brainstem) has been found to be a fairly sensitive indicator of PSP. […] Measurement of the midbrain size and ratio to other parts (pons) of the brainstem may be helpful in distinguishing PSP from Parkinson disease and another atypical parkinson disorder, multisystem atrophy (MSA).

• #2 Progressive Supranuclear Palsy in 2022: recent developments and an eye to the future | ACNR

  https://acnr.co.uk/articles/progressive-supranuclear-palsy-in-2022-recent-developments-and-an-eye-to-the-future/

  While genome wide association studies (GWAS) have identified several risk loci for PSP. […] Studies of geographical clusters of PSP have helped to identify several environmental risk factors. […] A PSP-like parkinsonian syndrome identified in Guadeloupe has been associated the consumption annonaceae fruit which contain annonacin, mitochondrial complex I inhibitor, which has been shown to increase 4R tau isoforms in cultured neurons. […] Hypertension, lower levels of education, and rural living are some of the other potential risk factors which have been investigated.

• #2 Progressive supranuclear palsy: An update – Medical Independent

  https://www.medicalindependent.ie/clinical-news/neurology/progressive-supranuclear-palsy-an-update/

  The mean age of onset of PSP is 63 years and progresses to death over approximately seven years, although some subtypes follow a slower course. Estimates of PSP prevalence vary considerably with rates of five-to-six per 100,000 commonly quoted. Estimates of the annual incidence of PSP range from 0.9-to-1.9 per 100,000. […] PSP is typically a sporadic disorder, however, familial cases related to mutations in the MAPT gene as well as a handful of cases related to LRRK2 mutations have been identified, while genome-wide association studies have identified several risk loci of PSP. […] Environmental risk factors have been identified related to geographic clusters of PSP. A PSP-like Parkinsonism identified in Guadeloupe has been associated with mitochondrial toxins in annonaceae fruit, while a high rate in an industrial region of northern France appears to relate to exposures to industrial metals.

• #2 Environmental Risk Factors for Progressive Supranuclear Palsy

  https://www.e-jmd.org/journal/view.php?number=346

  The findings of this study implicated that chronic hypertension itself might play a role in the development of PSP. […] The use of beta blockers showed an association with PSP, while other drugs did not show any association with PSP in the univariate analysis of the ENGENE-PSP study. […] This extensive literature review about environmental and modifiable factors in PSP shows that specific dietary habits, such as high consumption of Annonaceae family fruits, metal/chemical exposure, hypertension, and stress, are risk factors for PSP. High educational level and statin use may be protective.

• #2 The prevalence and incidence of progressive supranuclear palsy and corticobasal syndrome: a systematic review and meta-analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10421779/

  Studies of the epidemiology of PSP and CBS report highly heterogeneous findings. There is a need for further studies using rigorous phenotyping and the most recent diagnostic criteria to understand the true burden of these conditions. […] Epidemiological data on CBS and PSP are limited due to the relative rarity of the conditions; their protean presentation and the degree of pathological heterogeneity which they exhibit. However, an accurate understanding of the burden of disease is important for planning of medical services, provision of care, and the administration of disease modifying treatments. […] Prevalence data on PSP and/or CBS was reported in 23 studies. This included 20 papers and three conference abstracts. 15 studies reported prevalence data on PSP only, three reported on CBS only, and five reported data on both PSP and CBS. […] Reported incidence rates for PSP ranged from 0.3 to 2.6 per 100,000 person-years, while age-adjusted rates ranged from 0.12 to 2.0 per 100,000 person-years. […] The incidence of CBS ranged from 0.03 [14] to 0.8 per 100,000 person-years [18].

• #2 Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03168-z

  Medications, imaging, assistive devices, supportive care, and surgeries and procedures were the most widely utilized healthcare resources, each of which was used by at least 85% of participants at some point during the disease course. […] This study adds to these findings by characterizing changes in HRU after individuals receive a diagnosis, including an increase in the utilization of assistive devices and supportive care that would be challenging to assess in claims or EHR databases. […] This novel retrospective study adds to our current knowledge and understanding of PSP symptoms, comorbidities, and HRU across the disease journey.

• #2 Global Progressive Supranuclear Palsy (PSP) Epidemiology Forecast 2021-2030 – ResearchAndMarkets.com

  https://www.businesswire.com/news/home/20210331005760/en/Global-Progressive-Supranuclear-Palsy-PSP-Epidemiology-Forecast-2021-2030—ResearchAndMarkets.com

  This segment covers the epidemiology data in the US, EU5 countries (Germany, Spain, Italy, France, and the UK), and Japan from 2017 to 2030. It also helps recognize the causes of current and forecasted trends by exploring numerous studies, survey reports, and views of key opinion leaders. […] The Progressive Supranuclear Palsy epidemiology covered in the report provides historical as well as forecasted Progressive Supranuclear Palsy epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom) and Japan from 2017 to 2030. […] The report also provides the epidemiology trends observed in the 7MM during the study period, along with the assumptions undertaken. The calculated data are presented with relevant tables and graphs to give a clear view of the epidemiology at first sight.

• #3 Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03168-z

  Progressive supranuclear palsy (PSP) is a rare neurodegenerative brain disease with rapid progression and currently limited treatment options. A comprehensive understanding of disease progression, management, and healthcare resource utilization is limited, and further research is challenging due to the small population of patients. […] This retrospective study adds to the current understanding of PSP symptoms, comorbidities, and healthcare resource utilization (HRU) across the disease journey. […] Understanding disease progression is a concern for patients, caregivers, and physicians, especially given the lack of disease-modifying treatments. […] Recruitment for research studies in PSP presents additional challenges due to the older age at PSP diagnosis and the rapid progression of the disease.

• #3 Progressive supranuclear palsy (PSP): Clinical features and diagnosis – UpToDate

  https://www.uptodate.com/contents/progressive-supranuclear-palsy-psp-clinical-features-and-diagnosis

  Progressive supranuclear palsy (PSP) is one of the most common degenerative forms of atypical parkinsonism, with an estimated prevalence of 5 to 7.1 per 100,000 person-years. It is approximately two to three times more prevalent than corticobasal degeneration (CBD) and multiple system atrophy (MSA) but approximately ten times less common than Parkinson disease (PD). Males and females are affected in equal proportions. […] This topic will review the epidemiology, pathology, clinical features, and diagnosis of PSP.

• #3 Progressive Supranuclear Palsy in 2022: recent developments and an eye to the future | ACNR

  https://acnr.co.uk/articles/progressive-supranuclear-palsy-in-2022-recent-developments-and-an-eye-to-the-future/

  Progressive supranuclear palsy (PSP) is an uncommon, progressive, neurodegenerative condition which classically presents with eye movement abnormalities, axial rigidity, early falls and cognitive impairment. […] Estimates of PSP prevalence vary considerably with rates of 5-6 per 100,000 commonly quoted, although a recent study of Yonago City, Japan reported a prevalence as high as 17.9 per 100,000. […] Estimates of the annual incidence of PSP range from 0.9-1.9 per 100,000. […] Data from the UK Biobank, a large prospective cohort study of more than 500,000 people, has been used to study potential pre-diagnostic features of PSP. […] PSP is typically a sporadic disorder, however, familial cases related to mutations in the MAPT gene as well as cases related to LRRK2 mutations have been identified.

• #3 Progressive supranuclear palsy (PSP): Clinical features and diagnosis – UpToDate

  https://www.uptodate.com/contents/progressive-supranuclear-palsy-psp-clinical-features-and-diagnosis/print

  Progressive supranuclear palsy (PSP) is a rare age-related neurodegenerative disorder and one of several atypical parkinsonian disorders that feature prominently in the differential diagnosis of Parkinson disease (PD). […] PSP is one of the most common degenerative forms of atypical parkinsonism, with an estimated prevalence of 5 to 7.1 per 100,000 person-years. […] It is approximately two to three times more prevalent than corticobasal degeneration (CBD) and multiple system atrophy (MSA) but approximately ten times less common than Parkinson disease (PD). […] Males and females are affected in equal proportions.

Zobacz więcej