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

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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.

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Authors and Affiliations

  1. Institute of Clinical Neuroscience and Medical Psychology, Department of Neurology, Heinrich-Heine University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany

    Christian Johannes Hartmann, Lars Wojtecki, Stefan Jun Groiss, Alfons Schnitzler & Martin Südmeyer

  2. Department of Human Genetics, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany

    Barbara Leube & Beate Betz

  3. Department of Human Genetics, Eberhard Karls University Tübingen, Tübingen, Germany

    Peter Bauer

Authors
  1. Christian Johannes Hartmann
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  2. Barbara Leube
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  3. Lars Wojtecki
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  4. Beate Betz
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  5. Stefan Jun Groiss
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  6. Peter Bauer
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  7. Alfons Schnitzler
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  8. Martin Südmeyer
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Corresponding author

Correspondence to Christian Johannes Hartmann.

Electronic supplementary material

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415_2011_5911_MOESM1_ESM.mpg

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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Hartmann, C.J., Leube, B., Wojtecki, L. et al. A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome. J Neurol 258, 1186–1188 (2011). https://doi.org/10.1007/s00415-011-5911-6

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  • DOI: https://doi.org/10.1007/s00415-011-5911-6

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