Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Ramsay hunt syndrome : Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation

van Egmond, Martje E. ; Verschuuren-Bemelmans, Corien C. ; Nibbeling, Esther A. ; Elting, Jan Willem J. ; Sival, Deborah A. ; Brouwer, Oebele F. ; de Vries, Jeroen J. ; Kremer, Hubertus P. ; Sinke, Richard J. and Tijssen, Marina A. , et al. (2014) In Movement Disorders 29(1). p.139-143
Abstract

Background: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus. Methods: We evaluated 5 patients with cortical myoclonus, ataxia, and areflexia. Results: All 5 patients had the same homozygous mutation in GOSR2. Here we present their clinical and neurophysiological data. Our patients (aged 7-26 years) all originated from the northern Netherlands and showed a remarkably homogeneous phenotype. Myoclonus and ataxia were relentlessly progressive over the years.... (More)

Background: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus. Methods: We evaluated 5 patients with cortical myoclonus, ataxia, and areflexia. Results: All 5 patients had the same homozygous mutation in GOSR2. Here we present their clinical and neurophysiological data. Our patients (aged 7-26 years) all originated from the northern Netherlands and showed a remarkably homogeneous phenotype. Myoclonus and ataxia were relentlessly progressive over the years. Electromyography revealed signs of sensory neuronopathy or anterior horn cell involvement, or both, in all patients with absent reflexes. Conclusions: Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia.

(Less)
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; ; ; and , et al. (More)
; ; ; ; ; ; ; ; ; and (Less)
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Ataxia, GOSR2 mutation, Myoclonus, Progressive myoclonus ataxia, Ramsay Hunt
in
Movement Disorders
volume
29
issue
1
pages
5 pages
publisher
John Wiley & Sons Inc.
external identifiers
  • pmid:24458321
  • scopus:84892926645
ISSN
0885-3185
DOI
10.1002/mds.25704
language
English
LU publication?
no
id
27121205-a22b-45ae-a143-86b4c213f0be
date added to LUP
2020-02-26 10:09:10
date last changed
2024-03-20 06:27:22
@article{27121205-a22b-45ae-a143-86b4c213f0be,
  abstract     = {{<p>Background: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G&gt;T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus. Methods: We evaluated 5 patients with cortical myoclonus, ataxia, and areflexia. Results: All 5 patients had the same homozygous mutation in GOSR2. Here we present their clinical and neurophysiological data. Our patients (aged 7-26 years) all originated from the northern Netherlands and showed a remarkably homogeneous phenotype. Myoclonus and ataxia were relentlessly progressive over the years. Electromyography revealed signs of sensory neuronopathy or anterior horn cell involvement, or both, in all patients with absent reflexes. Conclusions: Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia.</p>}},
  author       = {{van Egmond, Martje E. and Verschuuren-Bemelmans, Corien C. and Nibbeling, Esther A. and Elting, Jan Willem J. and Sival, Deborah A. and Brouwer, Oebele F. and de Vries, Jeroen J. and Kremer, Hubertus P. and Sinke, Richard J. and Tijssen, Marina A. and de Koning, Tom J.}},
  issn         = {{0885-3185}},
  keywords     = {{Ataxia; GOSR2 mutation; Myoclonus; Progressive myoclonus ataxia; Ramsay Hunt}},
  language     = {{eng}},
  month        = {{01}},
  number       = {{1}},
  pages        = {{139--143}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Movement Disorders}},
  title        = {{Ramsay hunt syndrome : Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation}},
  url          = {{http://dx.doi.org/10.1002/mds.25704}},
  doi          = {{10.1002/mds.25704}},
  volume       = {{29}},
  year         = {{2014}},
}