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: Marta San Luciano, Laurie Ozelius, Katherine Sims, Deborah Raymond, Liu Liu, Rachel Saunders-Pullman (Affiliation: Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA.)
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 24 Issue 3 Pg. 425-8 (Feb 15 2009) ISSN: 1531-8257 [Electronic] United States
• PMID: 19133653 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: (c) 2008 Movement Disorder Society.

Chemical References

• Antiparkinson Agents
• Levodopa
• Sarcoglycans

Topics

• Adolescent
• Antiparkinson Agents (therapeutic use)
• Child
• Dystonia (complications, drug therapy, genetics)
• Female
• Gene Deletion
• Humans
• Levodopa (therapeutic use)
• Male
• Myoclonus (complications, drug therapy, genetics)
• Sarcoglycans (genetics)