title: Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
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.
authors.affiliation: The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA.
authors.forename: Deborah
authors.initials: D
authors.lastname: Raymond
authors.forename: Rachel
authors.initials: R
authors.lastname: Saunders-Pullman
authors.forename: Patricia
authors.initials: P
authors.lastname: de Carvalho Aguiar
authors.forename: Birgitt
authors.initials: B
authors.lastname: Schule
authors.forename: Norman
authors.initials: N
authors.lastname: Kock
authors.forename: Jennifer
authors.initials: J
authors.lastname: Friedman
authors.forename: Juliette
authors.initials: J
authors.lastname: Harris
authors.forename: Blair
authors.initials: B
authors.lastname: Ford
authors.forename: Steven
authors.initials: S
authors.lastname: Frucht
authors.forename: Gary A
authors.initials: GA
authors.lastname: Heiman
authors.forename: Danna
authors.initials: D
authors.lastname: Jennings
authors.forename: Dana
authors.initials: D
authors.lastname: Doheny
authors.forename: Mitchell F
authors.initials: MF
authors.lastname: Brin
authors.forename: Deborah
authors.initials: D
authors.lastname: de Leon Brin
authors.forename: Trisha
authors.initials: T
authors.lastname: Multhaupt-Buell
authors.forename: Anthony E
authors.initials: AE
authors.lastname: Lang
authors.forename: Roger
authors.initials: R
authors.lastname: Kurlan
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Laurie
authors.initials: L
authors.lastname: Ozelius
authors.forename: Susan
authors.initials: S
authors.lastname: Bressman
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000150:complications* / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009207:Myoclonus / Q000150:complications* / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D049031:Sarcoglycans / Q000235:genetics*; D012720:Severity of Illness Index; D012737:Sex Factors
chemical_list: C526572:SGCE protein, human; D049031:Sarcoglycans