title: Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers.
abstract: Although myoclonus and dystonia are the hallmarks of myoclonus-dystonia (M-D), psychiatric features, particularly obsessive-compulsive disorder and alcohol dependence, have been reported in three families linked to chromosome 7q21. As the epsilon sarcoglycan (SGCE) gene for M-D was subsequently identified, we evaluated the relationship between psychiatric features and SGCE mutations in these original and two additional families and confirm that OCD and alcohol dependence are associated with manifesting mutated SGCE.
authors.affiliation: Department of Neurology, PACC, Beth Israel Medical Center, Suite 5J, 10 Union Square East, New York, NY 10003, USA.
authors.forename: C W
authors.initials: CW
authors.lastname: Hess
authors.forename: D
authors.initials: D
authors.lastname: Raymond
authors.forename: P de Carvalho
authors.initials: Pde C
authors.lastname: Aguiar
authors.forename: S
authors.initials: S
authors.lastname: Frucht
authors.forename: J
authors.initials: J
authors.lastname: Shriberg
authors.forename: G A
authors.initials: GA
authors.lastname: Heiman
authors.forename: R
authors.initials: R
authors.lastname: Kurlan
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: S B
authors.initials: SB
authors.lastname: Bressman
authors.forename: L J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: R
authors.initials: R
authors.lastname: Saunders-Pullman
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000437:Alcoholism / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009207:Myoclonus / Q000235:genetics*; D009771:Obsessive-Compulsive Disorder / Q000453:epidemiology / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics*
chemical_list: D049031:Sarcoglycans