Spinocerebellar ataxia 36 (SCA36): “Costa da Morte ataxia”
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چکیده
منابع مشابه
Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia».
INTRODUCTION-OBJECTIVE To describe the history of the discovery of SCA36 and review knowledge of this entity, which is currently the most prevalent hereditary ataxia in Galicia (Spain) owing to a founder effect. DEVELOPMENT SCA36 is an autosomal dominant hereditary ataxia with late onset and slow progression. It presents with cerebellar ataxia, sensorineural hearing loss, and discrete motor n...
متن کامل‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization
Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat expansion in intron 1 of NOP56. Family interview and document research allowed us to reconstruct two extensive, multigenerational kindreds stemming from the same village (Costa da Morte in Galicia, Spain), in the 17th century...
متن کاملPrevalence 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 کاملSpinocerebellar ataxia type 36 in the Han Chinese.
OBJECTIVE To ascertain the genetic and clinical characteristics of the GGCCTG hexanucleotide repeat expansion in the nucleolar protein 56 gene (NOP56) in patients with spinocerebellar ataxia (SCA), sporadic ataxia, or amyotrophic lateral sclerosis (ALS) in Taiwan. METHODS We conducted clinical and molecular genetic studies of 109 probands with molecularly unassigned SCA from 512 SCA pedigrees...
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...
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ژورنال
عنوان ژورنال: Neurología (English Edition)
سال: 2017
ISSN: 2173-5808
DOI: 10.1016/j.nrleng.2014.11.004