title: Responsiveness to levodopa in epsilon-sarcoglycan deletions.
abstract: Myoclonus-dystonia (M-D) is characterized by early-onset myoclonus and dystonia, and is often due to mutations in the epsilon-sarcoglycan gene (SCGE) at locus 7q21. The pathogenesis of M-D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M-D due to SCGE deletions who displayed a robust and sustained response to levodopa (L-dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L-dopa may be considered in patients with myoclonus-dystonia.
authors.affiliation: Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA.
authors.forename: Marta San
authors.initials: MS
authors.lastname: Luciano
authors.forename: Laurie
authors.initials: L
authors.lastname: Ozelius
authors.forename: Katherine
authors.initials: K
authors.lastname: Sims
authors.forename: Deborah
authors.initials: D
authors.lastname: Raymond
authors.forename: Liu
authors.initials: L
authors.lastname: Liu
authors.forename: Rachel
authors.initials: R
authors.lastname: Saunders-Pullman
mesh_terms: D000293:Adolescent; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D002648:Child; D004421:Dystonia / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D009207:Myoclonus / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D049031:Sarcoglycans / Q000235:genetics*
chemical_list: D000978:Antiparkinson Agents; D049031:Sarcoglycans; D007980:Levodopa