Literature DB >> 20818609

Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients.

Hélio A G Teive1, Renato P Munhoz, Salmo Raskin, Walter O Arruda, Luciano de Paola, Lineu C Werneck, Tetsuo Ashizawa.   

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.
© 2010 Movement Disorder Society.

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Year:  2010        PMID： 20818609      PMCID： PMC3000879          DOI： 10.1002/mds.23324

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


  17 in total

1.  Spinocerebellar ataxia type 10 is rare in populations other than Mexicans.

Authors:  T Matsuura; L P W Ranum; V Volpini; M Pandolfo; H Sasaki; K Tashiro; K Watase; H Y Zoghbi; T Ashizawa
Journal:  Neurology       Date:  2002-03-26       Impact factor: 9.910

Review 2.  The descriptive epidemiology of epilepsy-a review.

Authors:  Poonam Nina Banerjee; David Filippi; W Allen Hauser
Journal:  Epilepsy Res       Date:  2009-04-15       Impact factor: 3.045

3.  Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.

Authors:  H A G Teive; B B Roa; S Raskin; P Fang; W O Arruda; Y Correa Neto; R Gao; L C Werneck; T Ashizawa
Journal:  Neurology       Date:  2004-10-26       Impact factor: 9.910

4.  Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy.

Authors:  T Matsuura; M Achari; M Khajavi; L L Bachinski; H Y Zoghbi; T Ashizawa
Journal:  Ann Neurol       Date:  1999-03       Impact factor: 10.422

5.  Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?

Authors:  Tohru Matsuura; Ping Fang; Christopher E Pearson; Parul Jayakar; Tetsuo Ashizawa; Benjamin B Roa; David L Nelson
Journal:  Am J Hum Genet       Date:  2005-11-15       Impact factor: 11.025

6.  Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

Authors:  T Matsuura; T Yamagata; D L Burgess; A Rasmussen; R P Grewal; K Watase; M Khajavi; A E McCall; C F Davis; L Zu; M Achari; S M Pulst; E Alonso; J L Noebels; D L Nelson; H Y Zoghbi; T Ashizawa
Journal:  Nat Genet       Date:  2000-10       Impact factor: 38.330

7.  Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10.

Authors:  Raji P Grewal; Madhureeta Achari; Tohru Matsuura; Alberto Durazo; Emilio Tayag; Lan Zu; Stefan M Pulst; Tetsuo Ashizawa
Journal:  Arch Neurol       Date:  2002-08

8.  Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

Authors:  L Zu; K P Figueroa; R Grewal; S M Pulst
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

9.  Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.

Authors:  Tohru Matsuura; Ping Fang; Xi Lin; Mehrdad Khajavi; Kuniko Tsuji; Astrid Rasmussen; Raji P Grewal; Madhureeta Achari; Maria E Alonso; Stefan M Pulst; Huda Y Zoghbi; David L Nelson; Benjamin B Roa; Tetsuo Ashizawa
Journal:  Am J Hum Genet       Date:  2004-05-04       Impact factor: 11.025

10.  Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10.

Authors:  Salmo Raskin; Tetsuo Ashizawa; Hélio A G Teive; Walter O Arruda; Ping Fang; Rui Gao; Misti C White; Lineu C Werneck; Benjamin Roa
Journal:  Arch Neurol       Date:  2007-04
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  20 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

3.  Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures.

Authors:  Karen N McFarland; Jilin Liu; Ivette Landrian; Desmond Zeng; Salmo Raskin; Mariana Moscovich; Emilia M Gatto; Adriana Ochoa; Hélio A G Teive; Astrid Rasmussen; Tetsuo Ashizawa
Journal:  Neurogenetics       Date:  2013-12-07       Impact factor: 2.660

4.  Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10.

Authors:  Adriana Moro; Renato P Munhoz; Mariana Moscovich; Walter O Arruda; Salmo Raskin; Laura Silveira-Moriyama; Tetsuo Ashizawa; Hélio A G Teive
Journal:  Cerebellum       Date:  2017-12       Impact factor: 3.847

5.  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

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.  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

9.  Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection.

Authors:  Hélio Afonso Ghizoni Teive; Adriana Moro; Mariana Moscovich; Walter Oleskho Arruda; Renato Puppi Munhoz; Salmo Raskin; Gladys Mary Ghizoni Teive; Norberto Dallabrida; Tetsuo Ashizawa
Journal:  Arq Neuropsiquiatr       Date:  2015-08       Impact factor: 1.420

10.  Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.

Authors:  Mario Cornejo-Olivas; Miguel Inca-Martinez; Raphael Machado Castilhos; Gabriel Vasata Furtado; Eduardo Preusser Mattos; Giovana Bavia Bampi; Sandra Leistner-Segal; Victoria Marca; Pilar Mazzetti; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim
Journal:  Cerebellum       Date:  2020-04       Impact factor: 3.847
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