HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Data Supplement Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Valente, E. M. Articles by Bhatia, K. P. Search for Related Content PubMed PubMed Citation Articles by Valente, E. M. Articles by Bhatia, K. P. Related Collections Dystonia Myoclonus All Genetics

The epsilon-sarcoglycan gene in myoclonic syndromes

From the IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute (Drs. Valente, DiGiorgio, Salvi, Kim, and Dallapiccola) Rome, Italy; Sobell Department of Motor Neuroscience and Movement Disorders (Drs. Edwards, Mir, Russo, Bozi, Quinn, and Bhatia), Institute of Neurology, University College London, London, UK; Servicio de Neurología (Dr. Mir), Hospital Universitario Virgen del Rocío, Seville, Spain; Department of Neurogenetics (Dr. Davis), Institute of Neurology, University College London, London, UK; Department of Neurological Sciences (Dr. Pennisi), Azienda Policlinico dell’Universita, University of Catania, Via S. Sofia, Italy; and Department of Experimental Medicine and Pathology (Dr. Dallapiccola), University "La Sapienza," Rome, Italy.

Address correspondence and reprint requests to Dr Kailash P. Bhatia, Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College of London, Queen Square, London WC1N 3BG, UK; e-mail: k.bhatia{at}ion.ucl.ac.uk

Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully defined. We screened 58 individuals with a range of myoclonic/dystonic syndromes for SGCE mutations. We found mutations (four of them novel) in six (21%) of the 29 patients with essential myoclonus and myoclonic dystonia, but did not find mutations in the 29 patients with other phenotypes.

This article has been cited by other articles:

				E. Roze, E. Apartis, F. Clot, N. Dorison, S. Thobois, L. Guyant-Marechal, C. Tranchant, P. Damier, D. Doummar, N. Bahi-Buisson, et al. Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations Neurology, March 25, 2008; 70(13): 1010 - 1016. [Abstract] [Full Text] [PDF]

				C. T. Esapa, A. Waite, M. Locke, M. A. Benson, M. Kraus, R.A. J. McIlhinney, R. V. Sillitoe, P. W. Beesley, and D. J. Blake SGCE missense mutations that cause myoclonus-dystonia syndrome impair {varepsilon}-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA Hum. Mol. Genet., February 1, 2007; 16(3): 327 - 342. [Abstract] [Full Text] [PDF]

				F. Yokoi, M. T. Dang, J. Li, and Y. Li Myoclonus, Motor Deficits, Alterations in Emotional Responses and Monoamine Metabolism in {varepsilon}-Sarcoglycan Deficient Mice J. Biochem., July 1, 2006; 140(1): 141 - 146. [Abstract] [Full Text] [PDF]

				S Tezenas du Montcel, F Clot, M Vidailhet, E Roze, P Damier, C P Jedynak, A Camuzat, A Lagueny, L Vercueil, D Doummar, et al. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes J. Med. Genet., May 1, 2006; 43(5): 394 - 400. [Abstract] [Full Text] [PDF]