Literature DB >> 15505178

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.

H A G Teive1, B B Roa, S Raskin, P Fang, W O Arruda, Y Correa Neto, R Gao, L C Werneck, T Ashizawa.   

Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families.

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Year:  2004        PMID： 15505178     DOI： 10.1212/01.wnl.0000142109.62056.57

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  32 in total

1.  Spinocerebellar ataxia type 10: from Amerindians to Latin Americans.

Authors:  Hélio A G Teive; Tetsuo Ashizawa
Journal:  Curr Neurol Neurosci Rep       Date:  2013-11       Impact factor: 5.081

Review 2.  Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice.

Authors:  W Ilg; M Branscheidt; A Butala; P Celnik; L de Paola; F B Horak; L Schöls; H A G Teive; A P Vogel; D S Zee; D Timmann
Journal:  Cerebellum       Date:  2018-10       Impact factor: 3.847

Review 3.  Repeat-associated RNA structure and aberrant splicing.

Authors:  Melissa A Hale; Nicholas E Johnson; J Andrew Berglund
Journal:  Biochim Biophys Acta Gene Regul Mech       Date:  2019-07-16       Impact factor: 4.490

4.  Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.

Authors:  Bernardo Machado Dias Domingues; Fábio A Nascimento; Alex Tiburtino Meira; Adriana Moro; Salmo Raskin; Tetsuo Ashizawa; Hélio Afonso Ghizoni Teive
Journal:  Cerebellum       Date:  2019-10       Impact factor: 3.847

5.  Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han.

Authors:  Jun-Ling Wang; Hong Jiang; Shen Zhang; Qian Xu; Ya-Fang Zhou; Shu-Sheng Liao; Lu Shen; Xin-Xiang Yan; Huai-Xu Zhu; Qian Pan; Kun Xia; Bei-Sha Tang
Journal:  J Genet       Date:  2008-12       Impact factor: 1.166

6.  Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease.

Authors:  Luca Leonardi; Christian Marcotulli; Karen N McFarland; Alessandra Tessa; Roberto DiFabio; Filippo M Santorelli; Francesco Pierelli; Tetsuo Ashizawa; Carlo Casali
Journal:  J Neurol       Date:  2014-06-17       Impact factor: 4.849

7.  Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation.

Authors:  Giovana B Bampi; Rafael Bisso-Machado; Tábita Hünemeier; Tailise C Gheno; Gabriel V Furtado; Diego Veliz-Otani; Mario Cornejo-Olivas; Pillar Mazzeti; Maria Cátira Bortolini; Laura B Jardim; Maria Luiza Saraiva-Pereira
Journal:  Neuromolecular Med       Date:  2017-09-13       Impact factor: 3.843

8.  Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10.

Authors:  Misti C White; Rui Gao; Weidong Xu; Santi M Mandal; Jung G Lim; Tapas K Hazra; Maki Wakamiya; Sharon F Edwards; Salmo Raskin; Hélio A G Teive; Huda Y Zoghbi; Partha S Sarkar; Tetsuo Ashizawa
Journal:  PLoS Genet       Date:  2010-06-10       Impact factor: 5.917

9.  Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.

Authors:  Karen N McFarland; Jilin Liu; Ivette Landrian; Rui Gao; Partha S Sarkar; Salmo Raskin; Mariana Moscovich; Emilia M Gatto; Hélio A G Teive; Adriana Ochoa; Astrid Rasmussen; Tetsuo Ashizawa
Journal:  Eur J Hum Genet       Date:  2013-02-27       Impact factor: 4.246

10.  Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).

Authors:  Teresa Almeida; Isabel Alonso; Sandra Martins; Eliana Marisa Ramos; Luísa Azevedo; Kinji Ohno; António Amorim; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim; Tohru Matsuura; Jorge Sequeiros; Isabel Silveira
Journal:  PLoS One       Date:  2009-02-23       Impact factor: 3.240
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