Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort
نویسندگان
چکیده
منابع مشابه
Parkinsonism in Spinocerebellar Ataxia
Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence. SCA2 is the most frequently reported subtype of SCA related to parkinsonism worldw...
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OBJECTIVE To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United States. METHODS A total of 577 patients with undiagnosed sporadic or familial cerebellar ataxia comprehensively evaluated at a tertiary referral ataxia center were molecularly evaluated for SCA36. Repeat primed PCR and fragment...
متن کاملLentivector-mediated rescue from cerebellar ataxia in a mouse model of spinocerebellar ataxia.
Polyglutamine disorders are inherited neurodegenerative diseases caused by the accumulation of expanded polyglutamine protein (polyQ). Previously, we identified a new guanosine triphosphatase, CRAG, which facilitates the degradation of polyQ aggregates through the ubiquitin-proteasome pathway in cultured cells. Because expression of CRAG decreases in the adult brain, a reduced level of CRAG cou...
متن کاملSpinocerebellar ataxia type 6.
We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the first case reported in Hong Kong. As genetic testing becomes more widely ava...
متن کاملOtoneurological findings in spinocerebellar ataxia.
OBJECTIVE Describe findings observed in ENG of patients with spinocerebellar ataxias. METHOD Forty-three patients were studied, and the following procedures were carried out: anamnesis, otorhinolaryngological and vestibular evaluation (ENG). RESULTS The clinical findings in the entire group of patients were: gait disturbances (83.72%), speech difficulties (48.83%), dizziness (41.86%) and dy...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2020
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000440