Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
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.
Raymond
Deborah
D
The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA.
Saunders-Pullman
Rachel
R
de Carvalho Aguiar
Patricia
P
Schule
Birgitt
B
Kock
Norman
N
Friedman
Jennifer
J
Harris
Juliette
J
Ford
Blair
B
Frucht
Steven
S
Heiman
Gary A
GA
Jennings
Danna
D
Doheny
Dana
D
Brin
Mitchell F
MF
de Leon Brin
Deborah
D
Multhaupt-Buell
Trisha
T
Lang
Anthony E
AE
Kurlan
Roger
R
Klein
Christine
C
Ozelius
Laurie
L
Bressman
Susan
S
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
C526572:SGCE protein, human; D049031:Sarcoglycans