Vol 54, No 1 (2020)
Invited Editorial
Published online: 2020-02-29

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Myoclonus-dystonia (DYT11, DYT-SGCE) — a channelopathy?

Klas Wictorin1, Andreas Puschmann2
Pubmed: 32115676
Neurol Neurochir Pol 2020;54(1):3-5.

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.

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Neurologia i Neurochirurgia Polska