Journal
MOVEMENT DISORDERS
Volume 22, Issue 7, Pages 1050-1053Publisher
WILEY-LISS
DOI: 10.1002/mds.21470
Keywords
ataxia; autosomal dominant; Mexican population
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Funding
- NINDS NIH HHS [R01 NS041547, NS041547, NS047596, R01 NS041547-08] Funding Source: Medline
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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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