Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.
Identifieur interne : 002775 ( PubMed/Curation ); précédent : 002774; suivant : 002776Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.
Auteurs : Elisa Alonso [Mexique] ; 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 RasmussenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
Descripteurs français
- Wicri :
- geographic : Mexique.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Calcium Channels, Nerve Tissue Proteins, Nuclear Proteins.
- geographic , epidemiology : Mexico.
- epidemiology : Spinocerebellar Ataxias.
- genetics : Spinocerebellar Ataxias, Trinucleotide Repeat Expansion.
- Female, Genes, Dominant, Humans, Male, Mutation, Pedigree.
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.
DOI: 10.1002/mds.21470
PubMed: 17427938
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pubmed:17427938Le document en format XML
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<author><name sortKey="Alonso, Elisa" sort="Alonso, Elisa" uniqKey="Alonso E" first="Elisa" last="Alonso">Elisa Alonso</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico.</nlm:affiliation>
<country xml:lang="fr">Mexique</country>
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<term>Genes, Dominant</term>
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<term>Mexico (epidemiology)</term>
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<front><div type="abstract" xml:lang="en">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.</div>
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<Abstract><AbstractText>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.</AbstractText>
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