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Journal of Neurology

, Volume 258, Issue 6, pp 1186–1188 | Cite as

A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome

  • Christian Johannes HartmannEmail author
  • Barbara Leube
  • Lars Wojtecki
  • Beate Betz
  • Stefan Jun Groiss
  • Peter Bauer
  • Alfons Schnitzler
  • Martin Südmeyer
Letter to the Editors

Dear Sirs,

Here we describe the clinical and genetic findings of a 40 year old female patient and her 2-years-younger sister (Fig.  1, probands III:1 and III:2) suffering from myoclonus-dystonia syndrome (MDS) with a novel missense mutation in the gene encoding ε-sarcoglycan (SGCE), which inhibits the expression of exon 4 and leads to a truncated and, therefore, inactive protein. MDS is an autosomal-dominant inherited disease characterized by a combination of dystonia and myoclonic jerks that frequently respond to ethanol ingestion [ 1]. Additional non-motor symptoms like anxiety and panic attacks, obsessive–compulsive symptoms, or addiction may coexist. In many cases, mutations in the SGCE-gene have been proven to cause the disease [ 2].

Keywords

Dystonia Mutation Carrier Panic Attack Ethanol Ingestion Regular Sequence 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

Dr. Hartmann received—unrelated to the current project—a research grant by the German Academic Exchange Service. Dr. Leube, Stefen Groiss, Dr. Betz: declares no financial disclosure. Dr. Wojtecki received—unrelated to the current project—travel grants and honoraria for lectures from Meda Pharma, Boehringer, Cephalon Pharma, TEVA Pharma, Desitin, St. Jude Medical, and Medtronic. Dr. Bauer received honoraria from Roche Diagnostics (Mannheim, Germany) and Actelion Pharmaceuticals (Basel, Switzerland). He is a consultant for CENTOGENE (Rostock, Germany) and furthermore received research grants of the German Research Council (BMBF) to GeNeMove (01GM0603), EUROSPA (01GM0807), and RISCA (09GM0820) as well as from the EU for EUROSCA (LSHM-CT-2004-503304), MarkMD (FP7-People PIAP-2008-230596), and TECHGENE (FP7-Health 2007-B 223143). A further project received funding from the HSP-Selbsthilfegruppe Deutschland e.V. Prof. Schnitzler declares research support by the DFG, BMBF, Helmholtz Society, and Volkswagen Foundation. He served—unrelated to the current project—on scientific advisory boards of Novartis, UCB, and Cephalon. He received—unrelated to the current project—honoraria for lectures from Boehringer Ingelheim, Novartis, UCB, Meda Pharma, and TEVA Pharma. Dr. Südmeyer declares research support by the Helmholtz Society, the “Stiftung für Altersforschung”, and the “Forschungskommission”, Heinrich-Heine-University, Düsseldorf (Germany). He received—unrelated to the current project—honoraria for lectures from Solvay, Meda Pharma, and TEVA Pharma.

Conflict of interest

None.

Supplementary material

415_2011_5911_MOESM1_ESM.mpg (8.3 mb)
Online Resource 1 Proband III:1 presenting at rest, in action performing intentional movements of the upper extremities, and during gait. In all conditions, but intensified in action, myoclonic jerks of all extremities can be observed. When walking, the proband shows a dystonic circumduction of the left leg in addition to myoclonus. (MPG 8510 kb)

Online Resource 2 Proband III:2 performing handwriting. No myoclonus or any dystonic symptom can be observed. In contrast, axial myoclonus and dystonia of the left leg occur while walking. Interestingly, the dystonic feature of the left leg is very similar to the aspect of her sister. (MPG 9144 kb)

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Christian Johannes Hartmann
    • 1
    Email author
  • Barbara Leube
    • 2
  • Lars Wojtecki
    • 1
  • Beate Betz
    • 2
  • Stefan Jun Groiss
    • 1
  • Peter Bauer
    • 3
  • Alfons Schnitzler
    • 1
  • Martin Südmeyer
    • 1
  1. 1.Institute of Clinical Neuroscience and Medical Psychology, Department of NeurologyHeinrich-Heine University DüsseldorfDüsseldorfGermany
  2. 2.Department of Human GeneticsHeinrich-Heine University DüsseldorfDüsseldorfGermany
  3. 3.Department of Human GeneticsEberhard Karls University TübingenTübingenGermany

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