Materiały źródłowe

• #1 Ataxia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562284/

  Ataxia may occur due to abnormalities in the nervous system’s different areas, including the brain, spinal cord, nerves, and nerve roots. The different types of ataxia often have similar or overlapping causes in the same patient. […] The overall prevalence of ataxia is 26 cases per 100,000 in children. The overall prevalence rate of hereditary ataxias is 10 cases per 100,000 individuals. Dominant cerebellar ataxia is present in 2.7 cases per 100,000 individuals, and recessive hereditary cerebellar ataxia in 3.3 per 100,000 individuals. An increased prevalence occurs in countries where consanguinity is a common practice. The worldwide prevalence of spinocerebellar ataxias is 3 to 5.6 cases per 100,000 individuals. The most common spinocerebellar ataxia is spinocerebellar ataxia type 3.

• #2 Assessment of ataxia – Differential diagnosis of symptoms | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/1097

  Ataxia is a neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. […] There are no precise data regarding the prevalence of ataxia of all causes. […] Epidemiological studies that focus on hereditary types of ataxia have shown a prevalence of around 10 per 100,000 population, and idiopathic ataxia probably outnumbers hereditary cases. […] Because there are many causes of degenerative and inherited ataxias, each individual type of ataxia is relatively rare. In the case of genetic forms of ataxia, there are clusters of high incidence of specific types due to founder effects and ethnic and geographical variations in the prevalence of many mutations.

• #3 Epidemiology of Cerebellar Diseases and Therapeutic Approaches – PubMed

  https://pubmed.ncbi.nlm.nih.gov/28940047/

  Diseases involving the cerebellum occur relatively commonly in children and adults around the globe. […] Recent global epidemiological studies on ataxia reported an estimated overall prevalence rate of 26/100,000 in children, a prevalence rate of dominant hereditary cerebellar ataxia of 2.7/100,000, and a prevalence rate of recessive hereditary cerebellar ataxia of 3.3/100,000. […] Continuous advances in genetic research and neuroimaging modalities have resulted in improved understanding of cerebellar diseases and have led to several revisions in their classification.

• #4 Advancing Ataxia Awareness

  https://www.uspharmacist.com/article/advancing-ataxia-awareness

  Ataxia is a neurologic condition that causes loss of muscle coordination and balance, leading to abnormal muscle movements. […] Epidemiological studies show that ataxia affects 26 in 100,000 children. Among the different forms, hereditary ataxias specifically have a prevalence rate of 10 cases per 100,000 individuals. […] The prognosis primarily depends on the type and underlying cause of ataxia. In hereditary ataxia, life expectancy is typically shorter than average, although some patients live into their 50s or 60s. […] For all forms of cerebellar ataxia, especially neurodegenerative types whether genetic or not, various forms of rehabilitation should be incorporated into treatment plans, with the primary goal of enhancing patients quality of life.

• #5 Epidemiology – GPnotebook

  https://gpnotebook.com/en-GB/pages/neurology/ataxia/epidemiology

  Epidemiological studies of the progressive ataxias in the UK are sparse. […] estimated prevalence: 1 in 12,500 adults with autosomal dominant cerebellar ataxia in the North East of England. […] estimated minimum prevalence: 10.2 in 100,000 people with late onset cerebellar ataxia in South Wales. […] most common inherited ataxia in the UK is Friedreichs ataxia, which is a recessively inherited condition that tends to be of early onset. […] estimated prevalence of Friedreichs ataxia in studies before the availability of genetic tests: 1 in 50,000. […] a more recent study estimated a carrier frequency of 1 in 85 and a disease incidence of 1 in 29,000. […] studies suggest that the prevalence of the progressive ataxias is higher than conditions that are generally better known such as Huntingtons disease and motor neurone disease.

• #6 Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study | Neurología (English Edition)

  https://www.elsevier.es/en-revista-neurologia-english-edition–495-avance-resumen-epidemiology-ataxia-hereditary-spastic-paraplegia-S2173580823000238

  Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study […] Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. […] We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. […] Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. […] In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. […] There is currently no epidemiological map of the types of ataxia and HSP in Spain. This information is essential for the development of healthcare policies, location and allocation of resources to reference units according to needs-based criteria, favouring care in specialised centres, identification of research strategies, and planning of clinical trials.

• #7 Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study | Neurología (English Edition)

  https://www.elsevier.es/en-revista-neurologia-english-edition–495-avance-resumen-epidemiology-ataxia-hereditary-spastic-paraplegia-S2173580823000238

  Our study estimates the prevalence of ataxia and HSP in Spain at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia is SCA3, followed by SCA2. The most frequent recessive ataxias are Friedreich ataxia and Niemann-Pick disease type C. The most frequent type of dominant HSP is SPG4, followed by SPG17, and the most frequent recessive type is SPG7, followed by SPG11. […] Genetic diagnosis was unavailable in 47.6% of cases. Despite these limitations, this is the best information available on the prevalence, frequency, and geographical distribution of these diseases in Spain.

• #8 Ataxia-Telangiectasia: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1113394-overview

  Ataxia-telangiectasia is reported in all regions of the world. The probable incidence of ataxia-telangiectasia is about 1 case in 100,000 births. The frequency of ataxia-telangiectasia mutant allele heterozygosity was reported to be 1.4-2% of the general population. The incidence of ataxia-telangiectasia was significantly higher in the highly consanguineous Bedouin population than in the relatively nonconsanguineous Jewish population of southern Israel. […] Ataxia-telangiectasia occurs equally among males and females. […] The lifetime risk of cancer among patients with ataxia-telangiectasia has been estimated to be 10-38%, which is about 100-fold more than the population rate; however, in the absence of chronic bronchopulmonary disease and lymphoreticular malignancy, ataxia-telangiectasia is consistent with survival into the fifth or sixth decade.

• #9

  https://link.springer.com/article/10.1007/s12311-023-01600-x

  Spinocerebellar ataxias (SCAs) are a heterogenous group of rare neurodegenerative conditions sharing an autosomal dominant pattern of inheritance. More than 40 SCAs have been genetically determined. However, a systematic review of SCA epidemiology in Europe is still missing. Here we performed a narrative review of the literature on the epidemiology of the most common SCAs in Europe. […] Overall, SCA3 is the most frequent spinocerebellar ataxia in Europe. Its frequency is strikingly higher in Portugal, followed by Germany, France, and Netherlands. None or few cases were described in Italy, Russia, Poland, Serbia, Finland, and Norway. SCA1 and SCA2 globally displayed similar frequencies, and are more prevalent in Italy, United Kingdom, Poland, Serbia, and France. […] The epidemiology of SCAs is extremely heterogeneous across European countries, and even within different subregions of the same country. Overall, SCA3 is the most frequent ADCA subtype in Europe. However, its prevalence remains high among families in Portugal, Germany, France, the Netherlands, and Spain, while in other countries none or few cases were reported. SCA1 and SCA2 are more diffuse across Europe, showed similar estimates, and were more frequent in Italy, France, Serbia, and Poland.

• #10

  https://link.springer.com/article/10.1007/s12311-023-01600-x

  The differences in the distribution of SCAs across different countries are likely the result of population migrations coupled with founder effects in isolated geographic areas. This explains the higher frequencies reported within specific small subregions, such as the Flores Islands (an island of the western group of the Azores) in Portugal for SCA3 and the Mazowieckie voivodeship in Poland for SCA1. […] In conclusion, the frequencies of SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, and SCA17 vary significantly between countries. When genetic analyses are carried out in clinical settings and family mutations are unknown, it is crucial to consider local epidemiological reports along with neurological findings. There is a need for further studies to investigate the epidemiology of less common subtypes of SCAs.

• #11 Trends in the Epidemiology of Spinocerebellar Ataxia Type 3 or Machado-Joseph Disease in the Azores Islands, Portugal

  https://www.jscimedcentral.com/jounal-article-info/JSM-Brain-Science/Trends-in-the-Epidemiology-of-Spinocerebellar-Ataxia-Type-3-or–Machado-Joseph-Disease-in-the-Azores-Islands%2C-Portugal-169

  Spinocerebellar ataxia type 3 (SCA3)/Machado – Joseph disease (MJD) is the most common form of autosomal dominant ataxias worldwide. […] In Portugal, the epidemiological situation of the Azores Islands, known to be a worldwide cluster for this disorder, needs to be regularly monitored. […] The present work aims to characterize the epidemiological situation of MJD in the Azores Islands, updating values of prevalence and establishing a temporal trend for its evolution from 1980 until the present – day. […] The prevalence value for the Azores archipelago by the end of 2015 was 39/100 000; prevalence values in the different islands are highly dependent on population size differences within the archipelago. […] An increase of prevalence from 1981 to 2015 was evidenced in the present study, values ranging from 23 to 39 patients per 100 000 habitants, respectively.

• #12 Trends in the Epidemiology of Spinocerebellar Ataxia Type 3 or Machado-Joseph Disease in the Azores Islands, Portugal

  https://www.jscimedcentral.com/jounal-article-info/JSM-Brain-Science/Trends-in-the-Epidemiology-of-Spinocerebellar-Ataxia-Type-3-or–Machado-Joseph-Disease-in-the-Azores-Islands%2C-Portugal-169

  MJD is recognised worldwide as a rare disease; this study confirms that the Azorean islands still represent an important cluster for this disorder. […] Given the local burden associated with the high prevalence of SCA3, regional – specific measures need to be reinforced, targeting the improvement of the life – quality of patients and families. […] The present work aims to characterize MJDs epidemiological situation in the Azorean islands, by updating values of prevalence and establishing a temporal trend for its evolution. […] Given the impact that MJD has in the Azores Islands, reliable estimates of the overall prevalence of this disease should be important for planning and delivering the appropriate provision of health and social care to patients and families. […] The updated overall prevalence of MJD in the Azores is 39/100 000, a value similar to the previously reported by Lima and colleagues (1997).

• #13 Trends in the Epidemiology of Spinocerebellar Ataxia Type 3 or Machado-Joseph Disease in the Azores Islands, Portugal

  https://www.jscimedcentral.com/jounal-article-info/JSM-Brain-Science/Trends-in-the-Epidemiology-of-Spinocerebellar-Ataxia-Type-3-or–Machado-Joseph-Disease-in-the-Azores-Islands%2C-Portugal-169

  In Azores, therefore, the number of identified MJD patients is more than 10 times comparatively to mainland Portugal, confirming Azores, namely Flores Island as a MJD cluster. […] Prevalence values are highly dependent on population size differences within the archipelago; in the small island of Corvo, with only 430 inhabitants, 1 in each 143 is affected. […] The tendency should be primarily related with the growing awareness about the disease, both in a medical and social context, overall allowing a better referral of patients to the clinicians. […] The large survival time, a common feature of MJD patients, should also have contributed to the tendency for the increase of prevalence observed in the Azores in the period analysed. […] MJD is recognised, worldwide, as a rare disease; this study confirms that the Azorean islands represent an important cluster for this disorder. […] Given the fact that Azorean MJD patients share genetic and environment conditions, the study of non – CAG factors underlying disease variability should be facilitated.

• #14 Friedreich Ataxia: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1150420-overview

  Friedreich ataxia is a relatively common disorder. It is the most common autosomal recessive ataxia, accounting for approximately 50% of all cases of hereditary ataxia. Estimates of incidence range anywhere from 1 in 22,000 to 2 in 100,000, with most studies yielding an incidence among Europeans and North Americans of European descent of approximately 1.5 per 100,000 per year; a slightly higher incidence has been reported in Quebec. […] Overall, the FA carrier rate has been estimated recently to be 1 in 60 to 1 in 90 with a disease prevalence of 1 per 29,000. […] Friedreich ataxia is a progressive disorder with significant morbidity. Loss of ambulation typically occurs 15 years after disease onset. More than 95% of patients are wheelchair bound by age 45 years. […] Friedreich ataxia is most prevalent in white populations. Most FA carriers and affected FA patients are believed to originate from a common European ancestor who lived more than 10,000 years ago. Frataxin gene expansions are therefore almost nonexistent among black African and Asian populations. […] The onset of Friedreich ataxia is early; it typically presents in children aged 8-15 years and almost always presents before age 20 years.

• #15 Epidemiology – Primary Care Notebook

  https://primarycarenotebook.com/pages/neurology/friedreichs-ataxia/epidemiology

  Friedreichs ataxia is the most common inherited ataxia in the Caucasian population. […] estimated incidence in Caucasians is about 1 in 29 000, with a carrier frequency of 1 in 85 […] accounts for about half of all genetic ataxia and three quarters of inherited ataxia in people under 25 years. The prevalence of FRDA is 2:100,000-4:100,000. The carrier frequency is 1:60-1:100. […] In the UK, there are at least 10,000 adults and 500 children with progressive ataxia according to the latest estimates. […] It is the commonest inherited ataxia in Europe. […] the estimated disease incidence based on carrier frequency of 1 in 85 is 1:29,000 […] in Europe, prevalence is quoted between 1 in 20,000 to 1 in 50,000, with some geographical variability.

• #16 Molecular epidemiology of hereditary ataxia in Finland | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-021-02409-z

  The aim of the study was to investigate the molecular epidemiology of ataxia in the Finnish population. […] A genetic cause of ataxia was found in 33 patients (34.4%). […] Expansion in ATXN8/OS results in the majority of dominant ataxias in Finland, while mutations in RFC1 and POLG are the most common cause of recessive ataxias. […] About 80% of the ataxias are sporadic, in which alcohol-related ataxia and non-hereditary degenerative ataxias are the most common. […] The majority of the hereditary ataxias are caused by dominantly inherited trinucleotide repeat expansion mainly in ATXNs, and these ataxias form a subgroup of spinocerebellar ataxias (SCAs). […] Recessively inherited Friedreichs ataxia (FRDA) is the most frequent heritable ataxia in Southern and Western Europe, but it seems to be rather rare in Northern Europe.

• #17

  https://link.springer.com/article/10.1007/s00415-023-11990-x

  Hereditary ataxia is a heterogeneous group of complex neurological disorders. We compiled a consecutive single-center series of 87 patients from 76 families with progressive ataxia of known or unknown etiology. We investigated them clinically and genetically using whole exome or whole genome sequencing. Genetic results were interpreted based on the American College of Medical Genetics criteria. Thirty (39.5%) of the 76 families had received a genetic diagnosis at the end of our study. We present the predominant etiologies of hereditary ataxia in a Swedish patient series. […] The hereditary ataxias are a large and heterogeneous group of diseases with variable genetic, clinical, pathogenic, pathophysiologic, and neuropathologic features. […] The diagnostic yield of NGS for ataxia is only between 12 and 52%, and approximately 30% of patients with clinical suspicion of ADCAs and 50% of ARCAs remain undiagnosed.

• #18

  https://link.springer.com/article/10.1007/s00415-023-11990-x

  Our study sheds some light on the presence of genetic forms of ataxia in the Swedish population. The most common form of autosomal dominant ataxia in our patient series was SCA3, which may be explained by the fact that we actively searched for and recruited these patients for a multi-centre study on biomarkers in SCA3. […] We found CANVAS to be the most common autosomal recessive form of ataxia among our patients, in line with other studies confirming that biallelic AAGGG expansion in RFC1 is a frequent cause of late-onset ataxia in Europeans. […] Most of the patients included in our study are being followed at our clinic and we thus routinely re-evaluate new ways to provide a diagnosis. This includes testing for newly discovered genetic causes for ataxia that so far evade detection in WES or WGS analyses.

• #19 Orphanet: Ataxia-telangiectasia

  https://www.orpha.net/en/disease/detail/100

  Prevalence is estimated to be 1/100,000 live births. […] A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). […] There is a high risk of malignancy, particularly of lymphoma and leukemia (in childhood and adolescence mostly), and carcinomas (in adulthood). […] The prognosis is severe due to the occurrence of respiratory infections, neurodegeneration, accelerated cutaneo-mucosal ageing and an increased risk of cancer (35% of patients develop cancer by the age of 20).

• #20 Ataxia–telangiectasia – Wikipedia

  https://en.wikipedia.org/wiki/Ataxia%E2%80%93telangiectasia

  Individuals of all races and ethnicities are affected equally. The incidence worldwide is estimated to be between 1 in 40,000 and 1 in 100,000 people. […] The prevalence of AT is estimated to be as high as 1 in 40,000 to as low as 1 in 300,000 people.

• #21 Ataxia telangiectasia epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Ataxia_telangiectasia_epidemiology_and_demographics

  Epidemiology: Ataxia-Telangiectasia prevalence is estimated between 1 in 40,000 and 1 in 100,000. Some studies have shown that the prevalence of A-T among adults younger than age 50 is approximately 1 in 500,000. Some mutations are more common than others is certain geographical regions for example, the 7636del9 mutation is a common mutation in European populations which has been shown to increase the risk of breast cancer in carriers. […] Etiology: Ataxia-Telangiectasia is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name. The primary role of the ATM protein is coordination of cellular signaling pathways in response to DNA double strand breaks, oxidative stress and other genotoxic stress.

• #22 Ataxia Telangiectasia | PM&R KnowledgeNow

  https://now.aapmr.org/ataxia-telangiectasia/

  In the United States, the incidence of Ataxia-Telangiectasia is 1 out of 88,000 live births with a carrier frequency of 1% and a prevalence of about 1 in 40,000. Primary prevention via genetic counseling and prenatal diagnosis is possible. Avoiding consanguinity reduces but does not eliminate risks of autosomal recessive diseases. There is a 25% recurrence risk for each child when both parents are carriers. […] Early diagnosis of AT is important for initiation of surveillance for cancer and prevention of ionizing radiation damage. Thus far over 3,000 ATM mutations have been discovered. Variant mutations and phenotype severity seems to vary with ATM protein levels. Protein assays may become available to help predict prognosis.

• #23 Ataxia-Telangiectasia | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/ataxia-telangiectasia

  AT occurs in one in 40,000 to 100,000 live births in the United States and it affects males and females of all races equally. […] The primary cancer risk in AT is the development of leukemia and lymphoma. The risk to develop malignancy is 38 percent, with leukemia and lymphoma accounting for 85 percent of malignancies. […] Some research has shown that individuals who are carriers of an ATM mutation may be at an increased risk for breast cancer. The cancer risk of individuals who are carriers for AT disease-causing mutations is estimated to be moderately increased compared to that of the general population (approximately 2-4 times greater than the general population risk); however the definitive risk is uncertain. […] Regardless of whether one decides to pursue genetic testing for ATM mutations, it is recommended that an individual with AT or a carrier of an ATM mutation consider the following evaluation and surveillance recommendations. It is important to note that these are only recommendations. There is no current medical consensus regarding the optimal surveillance for the development of cancer in individuals with AT or in carriers of an ATM gene alteration. […] Periodic medical visits to monitor for early signs of malignancy such as leukemia and lymphoma. […] The type and frequency of breast cancer surveillance should be determined by a physician familiar with AT following review of an individuals ATM mutation status and family history of cancer.

• #24 Ataxia-Telangiectasia: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1113394-overview

  Ataxia-telangiectasia heterozygotes present an excess risk of death (they die 7-8 y earlier than the normal population), mostly from ischemic heart disease (ataxia-telangiectasia carriers die 11 y younger than noncarriers) or cancer (ataxia-telangiectasia carriers die 4 y younger than noncarriers). They have an enhanced risk of recurrent infections.

• #25 Acute cerebellar ataxia in children – UpToDate

  https://www.uptodate.com/contents/acute-cerebellar-ataxia-in-children

  Acute cerebellar ataxia accounts for 35 to 60 percent of all cases of pediatric ataxia and usually occurs in children under six years of age, although older children and adolescents can also be affected. The incidence of this disorder in the pediatric age group is at least 1 in 100,000 to 500,000, making it the most common cause of ataxia in children. […] The pathogenic mechanisms that underlie acute cerebellar ataxia have not been definitively established but are believed to be autoimmune. Antiviral antibodies and autoantibodies against centrosomes, glutamate receptor delta 2, myelin-associated glycoprotein, neurons, and triosephosphate isomerase have been isolated from serum and/or cerebrospinal fluid (CSF) in affected patients.

• #26 Acute cerebellar ataxia in children | MedLink Neurology

  https://www.medlink.com/articles/acute-cerebellar-ataxia-in-children

  Postinfectious or acute cerebellar ataxia occurs sporadically. Factors that account for increased susceptibility to the development of postinfectious cerebellar ataxia in infected children are unknown. It is estimated that one in 4000 children with varicella will develop acute cerebellar ataxia. The incidence of acute cerebellar ataxia is estimated at 1:100,000 to 1:500,000 children per year, and it is the most common cause of childhood ataxia, representing approximately 50% to 60% of total cases. It accounts for approximately 0.02% of pediatric emergency room visits. […] Acute cerebellitis is thought to be a small percentage of acute cerebellar ataxia cases, with a meta-analysis estimating that it is 2.5% of acute ataxia in children. Larger prospective studies with strict inclusion criteria are needed to determine the true incidence of acute cerebellitis in the general pediatric population.

• #27 Ataxia | 5-Minute Pediatric Consult

  https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617620/all/Ataxia?q=Ataxia

  Acute cerebellar ataxia (ACA) was previously seen in 1 per 5,000 cases of varicella, accounting for 25% of total cases. The risk following varicella-zoster virus (VZV) vaccination is 1.5 per 1,000,000 doses. […] Most cases of ACA are still postviral, followed by ingestions, then Guillain-Barr syndrome (GBS) (combined account for 80% of total). […] Dominantly inherited spinocerebellar ataxias (SCAs) are 1 to 5 per 100,000 but tend to have a later age of onset. […] More likely to see autosomal recessive (AR) ataxias in childhood; most common is Friedreich ataxia (FRDA) at 1 in 30,000 to 50,000.

• #28 Ataxia | 5-Minute Pediatric Consult

  https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617620/6/Ataxia

  Ataxia refers to incoordination of movement out of proportion to weakness. […] Acute cerebellar ataxia (ACA) was previously seen in 1 per 5,000 cases of varicella, accounting for 25% of total cases. The risk following varicella-zoster virus (VZV) vaccination is 1.5 per 1,000,000 doses. […] Most cases of ACA are still postviral, followed by ingestions, then Guillain-Barr syndrome (GBS) (combined account for 80% of total). […] Dominantly inherited spinocerebellar ataxias (SCAs) are 1 to 5 per 100,000 but tend to have a later age of onset. […] More likely to see autosomal recessive (AR) ataxias in childhood; most common is Friedreich ataxia (FRDA) at 1 in 30,000 to 50,000.

• #29 Topic 4.2. Surveillance strategies to monitor cardiac function in Friedreich ataxia – Clinical Management Guidelines for Friedreich Ataxia

  https://frdaguidelines.org/4-2/

  It is recommended that all individuals with a diagnosis of FRDA have an EKG and echocardiogram performed as part of their initial evaluation and that the EKG and echocardiogram are repeated at least yearly thereafter, irrespective of the initial findings. […] Evaluation by a cardiologist should take place if an individual with Friedreich ataxia has cardiac symptoms or abnormal results on cardiac testing. […] Individuals with Friedreich ataxia being considered for scoliosis surgery, or other major surgery, are at risk of a poor outcome and require a multi-disciplinary approach to the management of heart function during surgery and in the postoperative period. […] These recommendations are to help guide the selection and frequency of cardiac testing for individuals with Friedreich ataxia.

• #30 Topic 4.2. Surveillance strategies to monitor cardiac function in Friedreich ataxia – Clinical Management Guidelines for Friedreich Ataxia

  https://frdaguidelines.org/4-2/

  However, at this stage it is unclear whether advanced imaging techniques such as cardiac magnetic resonance imaging should be used over standard echocardiography for identifying individuals with Friedreich ataxia who are at risk of heart disease. […] In addition, a Holter monitor should be used if an individual with Friedreich ataxia has heart palpitations, but at this time it is unclear whether routine Holter monitoring should be done when there are no symptoms of heart problems.

• #31 Ataxia-Telangiectasia

  https://www.genturis.eu/l=eng/thematic-disease-groups/other-rare-genturis/ataxia-telangiectasia.html

  There are no specific guidelines for cancer surveillance in A-T patients. Regular physical examinations in a specialized centre and education on the initial manifestations of leukaemia/lymphoma should be provided. […] In young adults, surveillance for epithelial cancers, namely, for breast cancer (by MRI) should be offered. Heterozygous carriers may also be monitored for breast cancer (females) and possibly also for other tumours (prostate, pancreas), depending on family history.

• #32 Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.

  https://escholarship.org/uc/item/2p44h08n

  BACKGROUND/OBJECTIVES: Ataxia telangiectasia (A-T) is a multiorgan disorder with increased vulnerability to cancer. […] Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A-T. […] Consensus was reached that evidence-based guidelines are needed for cancer surveillance in people with A-T, with separate recommendations for adults and children. […] The international expert consensus statement confirms the need for evidence-based cancer surveillance guidelines in A-T, highlights key features that the guidelines should include, and identifies areas of uncertainty in the expert community.

• #33 Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.

  https://www.repository.cam.ac.uk/handle/1810/350538

  BACKGROUND/OBJECTIVES: Ataxia telangiectasia (A-T) is a multiorgan disorder with increased vulnerability to cancer. […] Consensus was reached that evidence-based guidelines are needed for cancer surveillance in people with A-T, with separate recommendations for adults and children. […] The international expert consensus statement confirms the need for evidence-based cancer surveillance guidelines in A-T, highlights key features that the guidelines should include, and identifies areas of uncertainty in the expert community.

• #34 Diagnosis and management of progressive ataxia in adults | Practical Neurology

  https://pn.bmj.com/content/19/3/196

  Progressive ataxia in adults can be difficult to diagnose, owing to its heterogeneity and the rarity of individual causes. […] Many patients remain undiagnosed (idiopathic ataxia). […] This review aims to provide general neurologists with helpful pathways for diagnosing and managing adults with progressive ataxias. […] Recent advances in molecular genetics have enabled the diagnosis of many more cases with a genetic cause. […] Autoimmunity may also be important (but under-recognised) in causing some progressive cerebellar ataxias. […] There are validated measures (such as the scale for the assessment and rating of ataxia) to monitor the rate of progression serially. […] Brain imaging with MRI (or CT, if MRI is contraindicated) is essential in almost everyone with ataxia. […] The diagnostic pathway is summarised in the infographic.

• #35 Diagnosis and management of progressive ataxia in adults | Practical Neurology

  https://pn.bmj.com/content/19/3/196

  Patients with progressive ataxias should be offered 6-12 monthly reviews, ideally by a general neurologist or (where available) an ataxia specialist. […] Given that most progressive ataxias are incurable, there are strikingly few published studies on their palliation and end-of-life care. […] The recommendations in these guidelines are drawn from the wider field of progressive neurological conditions.

• #36 FA GCC Publications – Friedreich’s Ataxia Research Alliance

  https://www.curefa.org/research/initiatives/fa-global-clinical-consortium/fa-gcc-publications/

  Friedreich’s Ataxia related Diabetes: Epidemiology and management practices doi: 10.1016/j.diabres.2022.109828. Epub 2022 Mar 14. […] Impact of diabetes in the Friedreich ataxia clinical outcome measures study Ann Clin Transl Neurol. 2017 Jul 26;4(9):622-631. doi: 10.1002/acn3.439. eCollection 2017 Sep. […] Geographic and Sociodemographic Features of Friedreich Ataxia: Implications for Clinical Research. Journal of Rare Disorders. 2016. Vol 4, Issue 1.

• #37 Molecular epidemiology of hereditary ataxia in Finland | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-021-02409-z

  The differences may be explained by population history, as small founder population and rapid expansion associated with geographic isolation of subpopulations have resulted in unique genetic make-up and Finnish disease heritage. […] We characterized the genetic spectrum of ataxia and found that the pentanucleotide repeat expansion in the RFC1 gene is a common cause of ataxia in Finland. […] We found that the ATXN8/OS trinucleotide repeat expansion is the most prevalent cause of dominantly inherited ataxia in Finland confirming a previous observation. […] Common recessive causes were p.Trp748Ser in POLG and the recently discovered intronic expansion in RFC1. […] Altogether, 34% of our patients received a genetic diagnosis and the three most common genetic causes accounted for half of the diagnoses.

• #38 Molecular epidemiology of hereditary ataxia in Finland | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-021-02409-z

  These frequencies are specific to Finns and emphasize genetic differences between Caucasian populations. […] The biallelic expansion (AAGGG)exp in RFC1 was found in five patients that presented with ataxia, polyneuropathy and nystagmus resembling typical CANVAS. […] We found that mutations in ATXN8/OS, POLG and RFC1 are the most common genetic causes of ataxia in Finland.

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