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NEUROLOGY 2008;70:1010-1016
© 2008 American Academy of Neurology

Myoclonus–dystonia

Clinical and electrophysiologic pattern related to SGCE mutations

E. Roze, MD, PhD, E. Apartis, MD, PhD, F. Clot, PhD, N. Dorison, MD, S. Thobois, MD, PhD, L. Guyant-Marechal, MD, C. Tranchant, MD, PhD, P. Damier, MD, PhD, D. Doummar, MD, N. Bahi-Buisson, MD, PhD, N. André-Obadia, MD, D. Maltete, MD, A. Echaniz-Laguna, MD, Y. Pereon, MD, PhD, Y. Beaugendre, MD, S. Dupont, MD, PhD, T. De Greslan, MD, C. P. Jedynak, MD, G. Ponsot, MD, J. C. Dussaule, MD, PhD, A. Brice, MD, A. Dürr, MD, PhD and M. Vidailhet, MD

From the Department of Neurology (E.R., M.V.), Salpêtrière Hospital, Assitance Publique-Hôpitaux de Paris (AP-HP), Paris; Department of Physiology (E.A, Y.B., J.C.D.), Saint-Antoine Hospital, AP-HP, Paris; Centre National de la Recherche Scientifique Unité Mixte de Recherche 7102 (E.R.), Institut National de la Santé et de la Recherche Médicale (INSERM) U732 (E.A.), and INSERM U679 (F.C., A.B., A.D., M.V.), Pierre Marie Curie Paris VI University, Paris; Department of Genetics (F.C., A.B., A.D.), Epilepsy Unit (S.D.), and Department of Neurology (C.P.J., M.V.), Salpêtrière Hospital, AP-HP, Paris; Department of Child Neurology, Trousseau Hospital, AP-HP, Paris (N.D., D.D., G.P.); Department of Neurology, Pierre Wertheimer Hospital, Lyon (S.T., N.A.-O.); Department of Neurology and INSERM U614, Rouen Hospital, Rouen (L.G.-M., D.M.); Department of Neurology, Strasbourg University Hospital, Strasbourg (C.T., A.E.-L.); INSERM, CIC04, Nantes University Hospital, Nantes (P.D.); Reference Center for Neuromuscular Disease, University Hospital, Nantes (Y.P.); Department of Child Neurology, Necker Hospital, Paris (N.B.-B.); INSERM U692, Université Louis Pasteur, Strasbourg (A.E.-L.); and Department of Neurology, Val de Grâce Hospital, Paris (T.D.G.), France.

Address correspondence and reprint requests to Dr. Emmanuel Roze, Service de Neurologie, Hôpital Saint Antoine, 184 rue du Faubourg Saint-Antoine, 75571 Paris cedex 12, France emmanuel.roze{at}sat.aphp.fr

Objective: To clarify the clinical and neurophysiologic spectrum of myoclonus–dystonia patients with mutations of the SGCE gene.

Methods: We prospectively studied 41 consecutive patients from 22 families with documented mutations of the SGCE gene. The patients had a standardized interview, neurologic examination, and detailed neurophysiologic examination, including surface polymyography, long-loop C-reflex studies, and EEG jerk-locked back averaging.

Results: We noted a homogeneous electrophysiologic pattern of myoclonus of subcortical origin with short jerks (mean 95 msec, range 25 to 256 msec) at rest, during action, and during posture; there were no features of cortical hyperexcitability (specifically no abnormal C-reflex response and no short-latency premyoclonic potential on back-averaging studies). Myoclonus was either isolated or associated with mild to moderate dystonia, and predominated in the neck/trunk or proximal upper limbs in most cases. We found that 22% of the patients had a spontaneous improvement in their dystonia before reaching adulthood and that hypotonia can occasionally be a presenting symptom of the disorder.

Conclusion: We describe the myoclonus in patients with mutations in the SGCE gene and characterize the electrophysiologic pattern of this myoclonus. This pattern may help to improve the sensitivity of molecular tests and to define homogeneous populations suitable for inclusion in therapeutic trials.

Abbreviations: ADHD = attention-deficit hyperactivity disorder; JLBA = jerk-locked back averaging; LLCR = long-loop C-reflex; M-D = myoclonus–dystonia; OCD = obsessive–compulsive disorder.

Supplemental data at www.neurology.org

*These authors contributed equally to this work.

Supported by the INSERM French Dystonia Network, La Ligue Française Contre la Dystonie, and Groupement d’Intérêt Scientifique Maladies Rares.

Disclosure: The authors report no conflicts of interest.

Received May 18, 2007. Accepted in final form July 24, 2007.






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