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Myoclonus‐dystonia: An update |
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| Authors: | Kiyoka Kinugawa MD Marie Vidailhet MD Fabienne Clot PhD Emmanuelle Apartis MD PhD David Grabli MD PhD Emmanuel Roze MD PhD |
| Affiliation: | 1. INSERM U679, Pitié‐Salpêtrière Hospital, Paris, France;2. University Paris 6‐Pierre et Marie Curie, Paris, France;3. Department of Neurology, Pitié‐Salpêtrière Hospital, Paris, France;4. Department of Genetics and Cytogenetics, Pitié‐Salpêtrière Hospital, Paris, France;5. Department of Physiology, Saint‐Antoine Hospital, Paris, France;6. CNRS UMR 7102, Paris, France |
| Abstract: | Our knowledge of the clinical, neurophysiological, and genetic aspects of myoclonus‐dystonia (M‐D) has improved markedly in the recent years. Basic research has provided new insights into the complex dysfunctions involved in the pathogenesis of M‐D. On the basis of a comprehensive literature search, this review summarizes current knowledge on M‐D, with a focus on recent findings. We also propose modified diagnostic criteria and recommendationsfor clinical management. © 2008 Movement Disorder Society |
| Keywords: | myoclonus‐dystonia primary dystonia clinical neurology epsilon‐sarcoglycan genetics pathophysiology |