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Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation
Author(s) -
Egmond Martje E.,
VerschuurenBemelmans Corien C.,
Nibbeling Esther A.,
Elting Jan Willem J.,
Sival Deborah A.,
Brouwer Oebele F.,
Vries Jeroen J.,
Kremer Hubertus P.,
Sinke Richard J.,
Tijssen Marina A.,
Koning Tom J.
Publication year - 2014
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.25704
Subject(s) - myoclonus , ataxia , etiology , movement disorders , pediatrics , neurological disorder , medicine , psychology , central nervous system disease , neuroscience , pathology , disease
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. © 2013 International Parkinson and Movement Disorder Society