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 journalArticle

41 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 languageEnglish (US)
Pages (from-to)1050-1053
Number of pages4
JournalMovement Disorders
Volume22
Issue number7
DOIs
StatePublished - May 15 2007

Keywords

  • Ataxia
  • Autosomal dominant
  • Mexican population

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population'. Together they form a unique fingerprint.

Cite this