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Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

✍ Scribed by 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

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
77 KB
Volume
22
Category
Article
ISSN
0885-3185

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✦ Synopsis

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. © 2007 Movement Disorder Society

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