Relevant conflicts of interest/financial disclosures: Nothing to report.
Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation
Version of Record online: 30 OCT 2013
Copyright © 2013 Movement Disorder Society
Volume 29, Issue 1, pages 139–143, January 2014
How to Cite
van Egmond, M. E., Verschuuren-Bemelmans, C. C., Nibbeling, E. A., Elting, J. W. J., Sival, D. A., Brouwer, O. F., de Vries, J. J., Kremer, H. P., Sinke, R. J., Tijssen, M. A. and de Koning, T. J. (2014), Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation. Mov. Disord., 29: 139–143. doi: 10.1002/mds.25704
Full financial disclosures and author roles may be found in the online version of this article.
- Issue online: 23 JAN 2014
- Version of Record online: 30 OCT 2013
- Manuscript Accepted: 11 SEP 2013
- Manuscript Revised: 18 JUL 2013
- Manuscript Received: 30 JAN 2013
- Ramsay Hunt;
- progressive myoclonus ataxia;
- GOSR2 mutation;
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.
We evaluated 5 patients with cortical myoclonus, ataxia, and areflexia.
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.
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. © 2013 International Parkinson and Movement Disorder Society