Clinical phenotype of Brazilian families with spinocerebellar ataxia 10

H. A G Teive; B. B. Roa; S. Raskin; P. Fang; W. O. Arruda; Y. Correa Neto; R. Gao; L. C. Werneck; Tetsuo Ashizawa

doi:10.1212/01.WNL.0000142109.62056.57

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10

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

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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.

Original language	English (US)
Pages (from-to)	1509-1512
Number of pages	4
Journal	Neurology
Volume	63
Issue number	8
DOIs	https://doi.org/10.1212/01.WNL.0000142109.62056.57
State	Published - Oct 26 2004

ASJC Scopus subject areas

Clinical Neurology

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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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T1 - Clinical phenotype of Brazilian families with spinocerebellar ataxia 10

AU - Teive, H. A G

AU - Roa, B. B.

AU - Raskin, S.

AU - Fang, P.

AU - Arruda, W. O.

AU - Neto, Y. Correa

AU - Gao, R.

AU - Werneck, L. C.

AU - Ashizawa, Tetsuo

PY - 2004/10/26

Y1 - 2004/10/26

N2 - 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.

AB - 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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Clinical phenotype of Brazilian families with spinocerebellar ataxia 10

Abstract

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