Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
نویسندگان
چکیده
منابع مشابه
Prevalence of spinocerebellar ataxia 36 in a US population
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 کاملParkinsonism 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...
متن کاملSpinocerebellar ataxia type 21 exists in the Chinese Han population.
Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type 21 (SCA21) in several French families. Clinically, SCA21 is characterized as an early-onset, slowly progressive cerebellar syndrome typically associated with cognitive impairment. To date, molecular screening of SCA21 has not been reported among patients of other ethnic origins...
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...
متن کاملSpinocerebellar ataxia in monozygotic twins.
CONTEXT Although phenotypic heterogeneity in autosomal dominant spinocerebellar ataxia (SCA) has been explained in part by genotypic heterogeneity, clinical observations suggest the influence of additional factors. OBJECTIVES To demonstrate, quantitate, and localize physiologic abnormalities attributable to nongenetic factors in the development of hereditary SCA. DESIGN Quantitative assessm...
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ژورنال
عنوان ژورنال: Brain and Behavior
سال: 2019
ISSN: 2162-3279,2162-3279
DOI: 10.1002/brb3.1414