title: Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.
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.
authors.affiliation: Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico.
authors.forename: Elisa
authors.initials: E
authors.lastname: Alonso
authors.forename: Leticia
authors.initials: L
authors.lastname: Martínez-Ruano
authors.forename: Irene
authors.initials: I
authors.lastname: De Biase
authors.forename: Christopher
authors.initials: C
authors.lastname: Mader
authors.forename: Adriana
authors.initials: A
authors.lastname: Ochoa
authors.forename: Petra
authors.initials: P
authors.lastname: Yescas
authors.forename: Roxana
authors.initials: R
authors.lastname: Gutiérrez
authors.forename: Misti
authors.initials: M
authors.lastname: White
authors.forename: Luís
authors.initials: L
authors.lastname: Ruano
authors.forename: Marcela
authors.initials: M
authors.lastname: Fragoso-Benítez
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ashizawa
authors.forename: Sanjay I
authors.initials: SI
authors.lastname: Bidichandani
authors.forename: Astrid
authors.initials: A
authors.lastname: Rasmussen
mesh_terms: D015220:Calcium Channels / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008800:Mexico / Q000453:epidemiology; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000453:epidemiology* / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D015220:Calcium Channels; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins