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.
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.
Authors: W Ilg; M Branscheidt; A Butala; P Celnik; L de Paola; F B Horak; L Schöls; H A G Teive; A P Vogel; D S Zee; D Timmann Journal: Cerebellum Date: 2018-10 Impact factor: 3.847
Authors: Martje E van Egmond; Anouk Kuiper; Jan Willem J Elting; Oebele F Brouwer; Tom J de Koning; Marina A J Tijssen Journal: Mov Disord Clin Pract Date: 2015-02-24
Authors: David G Anderson; Andrea H Németh; Katherine A Fawcett; David Sims; Jack Miller; Amanda Krause Journal: Mov Disord Clin Pract Date: 2016-06-16
Authors: L H Koens; A Kuiper; M A Coenen; J W J Elting; J J de Vries; M Engelen; J H T M Koelman; F J van Spronsen; J M Spikman; T J de Koning; M A J Tijssen Journal: Orphanet J Rare Dis Date: 2016-09-01 Impact factor: 4.123
Authors: Martje E van Egmond; Amerins Weijenberg; Margreet E van Rijn; Jan Willem J Elting; Jeannette M Gelauff; Rodi Zutt; Deborah A Sival; Roald A Lambrechts; Marina A J Tijssen; Oebele F Brouwer; Tom J de Koning Journal: Orphanet J Rare Dis Date: 2017-03-07 Impact factor: 4.123
Authors: Tjitske F Lawerman; Rick Brandsma; Renate J Verbeek; Johannes H van der Hoeven; Roelineke J Lunsing; Hubertus P H Kremer; Deborah A Sival Journal: Front Hum Neurosci Date: 2017-12-13 Impact factor: 3.169
Authors: Austin A Larson; Peter R Baker; Miroslav P Milev; Craig A Press; Ronald J Sokol; Mary O Cox; Jacqueline K Lekostaj; Aaron A Stence; Aaron D Bossler; Jennifer M Mueller; Keshika Prematilake; Thierry Fotsing Tadjo; Charles A Williams; Michael Sacher; Steven A Moore Journal: Skelet Muscle Date: 2018-05-31 Impact factor: 4.912
Authors: Roman Praschberger; Simon A Lowe; Nancy T Malintan; Carlo N G Giachello; Nian Patel; Henry Houlden; Dimitri M Kullmann; Richard A Baines; Maria M Usowicz; Shyam S Krishnakumar; James J L Hodge; James E Rothman; James E C Jepson Journal: Cell Rep Date: 2017-10-03 Impact factor: 9.423