Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

Elisa Alonso; Leticia Martínez-Ruano; Irene De Biase; Christopher Mader; Adriana Ochoa; Petra Yescas; Roxana Gutiérrez; Misti White; Luís Ruano; Marcela Fragoso-Benítez; Tetsuo Ashizawa; Sanjay I. Bidichandani; Astrid Rasmussen

doi:10.1002/mds.21470

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

Elisa Alonso, Leticia Martínez-Ruano, Irene De Biase, Christopher Mader, Adriana Ochoa, Petra Yescas, Roxana Gutiérrez, Misti White, Luís Ruano, Marcela Fragoso-Benítez, Tetsuo Ashizawa, Sanjay I. Bidichandani, Astrid Rasmussen

Research output: Contribution to journal › Article › peer-review

51 Scopus citations

Abstract

Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1-3, 6-8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)₃₃ allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations.

Original language	English (US)
Pages (from-to)	1050-1053
Number of pages	4
Journal	Movement Disorders
Volume	22
Issue number	7
DOIs	https://doi.org/10.1002/mds.21470
State	Published - May 15 2007

Keywords

Ataxia
Autosomal dominant
Mexican population

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/mds.21470

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title = "Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population",

abstract = "Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1-3, 6-8, 10, 12, 17 and DRPLA. Only 18.5\% of dominant families remained undiagnosed; SCA2 accounted for half (45.4\%), followed by SCA10 (13.9\%), SCA3 (12\%), SCA7 (7.4\%), and SCA17 (2.8\%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9\%), and 2 had SCA17 (1.6\%). In the SCA2 patients we identified 6 individuals with the rare (CAG)33 allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations.",

keywords = "Ataxia, Autosomal dominant, Mexican population",

author = "Elisa Alonso and Leticia Mart{\'i}nez-Ruano and \{De Biase\}, Irene and Christopher Mader and Adriana Ochoa and Petra Yescas and Roxana Guti{\'e}rrez and Misti White and Lu{\'i}s Ruano and Marcela Fragoso-Ben{\'i}tez and Tetsuo Ashizawa and Bidichandani, \{Sanjay I.\} and Astrid Rasmussen",

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language = "English (US)",

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T1 - Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

AU - Alonso, Elisa

AU - Martínez-Ruano, Leticia

AU - De Biase, Irene

AU - Mader, Christopher

AU - Ochoa, Adriana

AU - Yescas, Petra

AU - Gutiérrez, Roxana

AU - White, Misti

AU - Ruano, Luís

AU - Fragoso-Benítez, Marcela

AU - Ashizawa, Tetsuo

AU - Bidichandani, Sanjay I.

AU - Rasmussen, Astrid

PY - 2007/5/15

Y1 - 2007/5/15

N2 - Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1-3, 6-8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)33 allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations.

AB - Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1-3, 6-8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)33 allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations.

KW - Ataxia

KW - Autosomal dominant

KW - Mexican population

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AN - SCOPUS:34347231996

SN - 0885-3185

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EP - 1053

JO - Movement Disorders

JF - Movement Disorders

IS - 7

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Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

Abstract

Keywords

ASJC Scopus subject areas

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