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

Wictorin, Klas LU and Puschmann, Andreas LU orcid (2020) In Neurologia i neurochirurgia polska 54(1). p.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... (More)

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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author
and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
DYT11, myoclonus-dystonia, phenotype, SGCE
in
Neurologia i neurochirurgia polska
volume
54
issue
1
pages
3 pages
publisher
Via Medica
external identifiers
  • pmid:32115676
  • scopus:85080840821
ISSN
0028-3843
DOI
10.5603/PJNNS.a2020.0013
language
English
LU publication?
yes
id
a3cb0330-0c99-43d5-bad8-fc4743c45390
date added to LUP
2020-03-20 14:35:05
date last changed
2025-04-04 14:08:28
@misc{a3cb0330-0c99-43d5-bad8-fc4743c45390,
  abstract     = {{<p>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.</p>}},
  author       = {{Wictorin, Klas and Puschmann, Andreas}},
  issn         = {{0028-3843}},
  keywords     = {{DYT11; myoclonus-dystonia; phenotype; SGCE}},
  language     = {{eng}},
  month        = {{03}},
  number       = {{1}},
  pages        = {{3--5}},
  publisher    = {{Via Medica}},
  series       = {{Neurologia i neurochirurgia polska}},
  title        = {{Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?}},
  url          = {{http://dx.doi.org/10.5603/PJNNS.a2020.0013}},
  doi          = {{10.5603/PJNNS.a2020.0013}},
  volume       = {{54}},
  year         = {{2020}},
}