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Movement Disorders (revue)

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Spinocerebellar Ataxia Type 10: Frequency of epilepsy in a large sample of Brazilian patients

Identifieur interne : 000113 ( Pmc/Corpus ); précédent : 000112; suivant : 000114

Spinocerebellar Ataxia Type 10: Frequency of epilepsy in a large sample of Brazilian patients

Auteurs : Hélio A. G. Teive ; Renato P. Munhoz ; Salmo Raskin ; Walter O. Arruda ; Luciano De Paola ; Lineu C. Werneck ; Tetsuo Ashizawa

Source :

RBID : PMC:3000879

Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases.


Url:
DOI: 10.1002/mds.23324
PubMed: 20818609
PubMed Central: 3000879

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