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Phenotypic spectrum and sex effects in eleven myoclonus‐dystonia families with ε‐sarcoglycan mutations
Author(s) -
Raymond Deborah,
SaundersPullman Rachel,
de Carvalho Aguiar Patricia,
Schule Birgitt,
Kock Norman,
Friedman Jennifer,
Harris Juliette,
Ford Blair,
Frucht Steven,
Heiman Gary A.,
Jennings Danna,
Doheny Dana,
Brin Mitchell F.,
de Leon Brin Deborah,
MulthauptBuell Trisha,
Lang Anthony E.,
Kurlan Roger,
Klein Christine,
Ozelius Laurie,
Bressman Susan
Publication year - 2008
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21785
Subject(s) - dystonia , myoclonus , penetrance , age of onset , myoclonic jerk , mutation , genetics , phenotype , medicine , psychology , biology , psychiatry , disease , gene
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. © 2007 Movement Disorder Society