Neurology®
The most widely read and highly cited peer-reviewed Neurology journal
Quick Search
Advanced Search
This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Videos
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Hjermind, L. E.
Right arrow Articles by Sørensen, S. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Hjermind, L. E.
Right arrow Articles by Sørensen, S. A.
Related Collections
Right arrow All Movement Disorders
Right arrow Dystonia
Right arrow Myoclonus
Right arrow All Genetics

Neurology 2003;60:1536-1539
© 2003 American Academy of Neurology
Brief Communications

A novel mutation in the {epsilon}-sarcoglycan gene causing myoclonus–dystonia syndrome

L. E. Hjermind, MD, L. M. Werdelin, DrMedSci, H. Eiberg, MSc, B. Krag–Olsen, MD, E. Dupont, MD and S. A. Sørensen, DrMedSci

From the Department of Medical Genetics (Drs. Hjermind, Sørensen, and H. Eiberg), Panum Institute, University of Copenhagen; Department of Neurology (Drs. Hjermind and Werdelin), Bispebjerg Hospital, University Hospital of Copenhagen; Department of Pediatrics (Dr. Krag–Olsen), Skejby Hospital, University Hospital of Aarhus; and Department of Neurology (Dr. Dupont), Aarhus Kommunehospital, University Hospital of Aarhus, Denmark.

Address correspondence and reprint requests to Dr. Lena E. Hjermind, Department of Medical Genetics, Panum Institute, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen N, Denmark; e-mail: lena{at}imbg.ku.dk

Two families were referred with different clinical diagnoses of dystonia. Twenty-four family members were examined clinically, and mutation analyses were performed. Most of the affected individuals had laryngeal myoclonus and more severe dystonia of the legs than usually reported in myoclonus–dystonia syndrome. Sequence analyses revealed a previously unreported deletion (974delC or R325X) in exon 7 in the {epsilon}-sarcoglycan gene in members of both families. The two families were found to be related.




This article has been cited by other articles:


Home page
 BrainHome page
F. Asmus, L. E. Hjermind, E. Dupont, J. Wagenstaller, E. Haberlandt, M. Munz, T. M. Strom, and T. Gasser
Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype
Brain, October 1, 2007; 130(10): 2736 - 2745.
[Abstract] [Full Text] [PDF]

Home page
 J BiochemHome page
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]

Home page
 J. Med. Genet.Home page
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]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
B Schule, N Kock, M Svetel, N Dragasevic, K Hedrich, P de Carvalho Aguiar, L Liu, K Kabakci, J Garrels, E-M Meyer, et al.
Genetic heterogeneity in ten families with myoclonus-dystonia
J. Neurol. Neurosurg. Psychiatry, August 1, 2004; 75(8): 1181 - 1185.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
K. Hedrich, E. -M. Meyer, B. Schule, N. Kock, P. de Carvalho Aguiar, K. Wiegers, J. H. Koelman, J. Garrels, R. Durr, L. Liu, et al.
Myoclonus-dystonia: Detection of novel, recurrent, and de novo SGCE mutations
Neurology, April 13, 2004; 62(7): 1229 - 1231.
[Full Text] [PDF]