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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Authors | Marta San Luciano, Laurie Ozelius, Katherine Sims, Deborah Raymond, Liu Liu, Rachel Saunders-Pullman |
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)
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Copyright | (c) 2008 Movement Disorder Society. |
Chemical References |
- Antiparkinson Agents
- Sarcoglycans
- Levodopa
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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)
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