Article
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2014
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, Tijssen Marina A, de Koning Tom J
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.