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Myoclonus-dystonia (DYT11, DYT-SGCE) — a channelopathy?
Affiliations- Lund University, Department of Clinical Sciences Helsingborg, Sweden
- Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden
open access
Abstract
Introduction. Kaczyńska et al. reported a family with myoclonus-dystonia (M-D) caused by a truncating SGCE mutation, in which two members had epilepsy. Further, patients had mild psychiatric and developmental deficits.
Clinical reflections. Characteristic motor features of M-D include myoclonus, dystonia and tremor. A wide range of additional disease manifestations are known. A few patients with M-D have seizures.
Clinical implications. Altered neuronal excitability has been found in the pathogenesis of M-D. This may explain the partial effectiveness of antiepileptics and a lower seizure threshold, and could encourage trials of other membrane stabilisers. Careful clinical observations of seemingly well-known diseases remain important.
Abstract
Introduction. Kaczyńska et al. reported a family with myoclonus-dystonia (M-D) caused by a truncating SGCE mutation, in which two members had epilepsy. Further, patients had mild psychiatric and developmental deficits.
Clinical reflections. Characteristic motor features of M-D include myoclonus, dystonia and tremor. A wide range of additional disease manifestations are known. A few patients with M-D have seizures.
Clinical implications. Altered neuronal excitability has been found in the pathogenesis of M-D. This may explain the partial effectiveness of antiepileptics and a lower seizure threshold, and could encourage trials of other membrane stabilisers. Careful clinical observations of seemingly well-known diseases remain important.
Keywords
myoclonus-dystonia, DYT11, SGCE, phenotype
About this articleTitle
Myoclonus-dystonia (DYT11, DYT-SGCE) — a channelopathy?
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Invited Editorial
Pages
3-5
Published online
2020-02-29
Page views
1250
Article views/downloads
1434
DOI
Pubmed
Bibliographic record
Neurol Neurochir Pol 2020;54(1):3-5.
Keywords
myoclonus-dystonia
DYT11
SGCE
phenotype
Authors
Klas Wictorin
Andreas Puschmann
