Successful Pallidal Deep Brain Stimulation in a Patient with Childhood-Onset Generalized Dystonia with ANO3 Mutation

Dystonia 24 (DYT24) is an autosomal dominant disease caused by ANO3 mutation encoding anoctamin 3 that is predominantly characterized as adult-onset craniocervical dystonia; DYT24 is frequently combined with tremor or myoclonus [1]. We recently reported a patient with the pathogenic variant of ANO3 ...

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Bibliographic Details
Published in:Journal of movement disorders 2019, 12(3), , pp.190-191
Main Authors: Yoo, Dallah, Kim, Han-Joon, Chae, Jong-Hee, Paek, Sun Ha, Jeon, Beomseok
Format: Article
Language:English
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Letter to the Editor
신경과학
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Summary:Dystonia 24 (DYT24) is an autosomal dominant disease caused by ANO3 mutation encoding anoctamin 3 that is predominantly characterized as adult-onset craniocervical dystonia; DYT24 is frequently combined with tremor or myoclonus [1]. We recently reported a patient with the pathogenic variant of ANO3 (p.Ser651Asn) who presented with early onset generalized dystonia starting in the lower extremities at age 3 with the broadening phenotypic spectrum of DYT24 [2]. Here, we further report that the patient exhibited an excellent response to deep brain stimulation (DBS) at the internal globus pallidus (GPi). KCI Citation Count: 3
ISSN:2005-940X
2093-4939
DOI:10.14802/jmd.19016