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

Authors :
Alonso E
Martínez-Ruano L
De Biase I
Mader C
Ochoa A
Yescas P
Gutiérrez R
White M
Ruano L
Fragoso-Benítez M
Ashizawa T
Bidichandani SI
Rasmussen A
Source :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2007 May 15; Vol. 22 (7), pp. 1050-3.
Publication Year :
2007

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.<br /> ((c) 2007 Movement Disorder Society.)

Details

Language :
English
ISSN :
0885-3185
Volume :
22
Issue :
7
Database :
MEDLINE
Journal :
Movement disorders : official journal of the Movement Disorder Society
Publication Type :
Academic Journal
Accession number :
17427938
Full Text :
https://doi.org/10.1002/mds.21470