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The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene
Teive, Hélio A. G; Arruda, Walter O; Raskin, Salmo; Ashizawa, Tetsuo; Werneck, Lineu César.
  • Teive, Hélio A. G; Federal University of Paraná. Hospital de Clínicas. Neurology Service. Curitiba. BR
  • Arruda, Walter O; Federal University of Paraná. Hospital de Clínicas. Neurology Service. Curitiba. BR
  • Raskin, Salmo; Genetika Laboratory. Curitiba. BR
  • Ashizawa, Tetsuo; University of Texas Medical Branch. Neurology Department. Galveston. US
  • Werneck, Lineu César; Federal University of Paraná. Hospital de Clínicas. Neurology Service. Curitiba. BR
Arq. neuropsiquiatr ; 65(4a): 965-968, dez. 2007. ilus
Article in English | LILACS | ID: lil-470123
ABSTRACT
The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry Family with autosomal dominant pure cerebellar ataxia, till the final identification of further families without Mexican ancestry. These families present a quite different phenotype from those SCA10 families described in Mexico.
RESUMO
Os autores apresentam a história da descoberta da ataxia espinocerebelar tipo 10 (AEC10) no Brasil, desde o primeiro relato em uma família com ancestrais portugueses com ataxia cerebelar pura, autossômica dominante, até a identificação de famílias sem ancestrais mexicanos. Essas famílias apresentam um fenótipo de AEC10, com ataxia cerebelar "pura", distinta daquele descrito nas famílias no México.
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Full text: Available Index: LILACS (Americas) Main subject: Spinocerebellar Ataxias / Mutation Type of study: Prognostic study Limits: Humans Country/Region as subject: South America / Brazil / Mexico Language: English Journal: Arq. neuropsiquiatr Journal subject: Neurology / Psychiatry Year: 2007 Type: Article Affiliation country: Brazil / United States Institution/Affiliation country: Federal University of Paraná/BR / Genetika Laboratory/BR / University of Texas Medical Branch/US

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Full text: Available Index: LILACS (Americas) Main subject: Spinocerebellar Ataxias / Mutation Type of study: Prognostic study Limits: Humans Country/Region as subject: South America / Brazil / Mexico Language: English Journal: Arq. neuropsiquiatr Journal subject: Neurology / Psychiatry Year: 2007 Type: Article Affiliation country: Brazil / United States Institution/Affiliation country: Federal University of Paraná/BR / Genetika Laboratory/BR / University of Texas Medical Branch/US