Literature DB >> 18949263

Spinocerebellar ataxia type 6 in Brazil.

Hélio A G Teive1, Renato Puppi Munhoz, Salmo Raskin, Lineu César Werneck.   

Abstract

Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to three different Brazilian families, all of them with Japanese ancestry, from Hokkaido island of Japan.

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Year:  2008        PMID: 18949263     DOI: 10.1590/s0004-282x2008000500015

Source DB:  PubMed          Journal:  Arq Neuropsiquiatr        ISSN: 0004-282X            Impact factor:   1.420


  4 in total

Review 1.  Machado-Joseph Disease: from first descriptions to new perspectives.

Authors:  Conceição Bettencourt; Manuela Lima
Journal:  Orphanet J Rare Dis       Date:  2011-06-02       Impact factor: 4.123

2.  Olfactory impairment in familial ataxias.

Authors:  Mariana Moscovich; Renato Puppi Munhoz; Helio A Teive; Salmo Raskin; Margarete de J Carvalho; Egberto R Barbosa; Ronald Ranvaud; Jilin Liu; Karen McFarland; Tetsuo Ashizawa; Andrew J Lees; Laura Silveira-Moriyama
Journal:  J Neurol Neurosurg Psychiatry       Date:  2012-07-11       Impact factor: 10.154

Review 3.  The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review.

Authors:  Hélio A G Teive; Alex T Meira; Carlos Henrique F Camargo; Renato P Munhoz
Journal:  Mov Disord Clin Pract       Date:  2019-08-16

Review 4.  Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.

Authors:  Shinsuke Fujioka; Christina Sundal; Zbigniew K Wszolek
Journal:  Orphanet J Rare Dis       Date:  2013-01-18       Impact factor: 4.123

  4 in total

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