Article

Responsiveness to levodopa in epsilon-sarcoglycan deletions.

Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA.
Movement Disorders (impact factor: 4.51). 02/2009; 24(3):425-8. DOI:10.1002/mds.22375 pp.425-8
Source: PubMed

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.

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Keywords

agents
 
dopaminergic hyperactivity
 
early-onset myoclonus
 
epsilon-sarcoglycan gene
 
hyperdopaminergic knockout model
 
levodopa
 
M-D
 
murine knockout model
 
pathogenesis
 
SCGE deletions