Ramsay hunt syndrome : Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation
(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)
- author
- publishing date
- 2014-01-01
- 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
- 2024-07-24 15:21:57
@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>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}}, }