1. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
- Author
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Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, Schule B, Kock N, Friedman J, Harris J, Ford B, Frucht S, Heiman GA, Jennings D, Doheny D, Brin MF, de Leon Brin D, Multhaupt-Buell T, Lang AE, Kurlan R, Klein C, Ozelius L, and Bressman S
- Subjects
- Adult, Aged, DNA Mutational Analysis, Exons genetics, Female, Humans, Introns genetics, Male, Point Mutation genetics, Severity of Illness Index, Sex Factors, Dystonia complications, Dystonia genetics, Myoclonus complications, Myoclonus genetics, Phenotype, Sarcoglycans genetics
- Abstract
Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. In 42 affected individuals from 11 families with identified mutations, we found that sex was highly associated with age at onset regardless of mutation type; the median age onset for girls was 5 years versus 8 years for boys (P < 0.0097). We found no association between mutation type and phenotype., ((c) 2007 Movement Disorder Society.)
- Published
- 2008
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