Literature DB >> 17427938

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.

Elisa Alonso1, 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.   

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. (c) 2007 Movement Disorder Society.

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Year:  2007        PMID: 17427938     DOI: 10.1002/mds.21470

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


  19 in total

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9.  Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.

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10.  Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families.

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