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

ABSTRACT:

SUBMITTER: Yoo D

PROVIDER: S-EPMC6763713 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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

Yoo Dallah D Kim Han-Joon HJ Chae Jong-Hee JH Paek Sun Ha SH Jeon Beomseok B

Journal of movement disorders 20190717 3

PMID: 31309772

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Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation.

Project description:BackgroundDystonia is a ubiquitous syndrome, with a growing number of genes being continually identified. Mutations in the anoctamin-3 gene have been described to cause dystonia but the management and long-term outcomes are still largely unknown.MethodsWe present here a long term, longitudinal follow up of a patient with generalized dystonia, who was treated with bilateral pallidal deep brain stimulation and was found to harbor a mutation in the anoctamin-3 gene.ResultsOngoing adjustment of stimulation settings and medications led to good and sustained dystonia control; however the patient did suffer short term relapses, manifested as dystonic crisis, which necessitated inpatient admission.ConclusionThis only the second patient to be reported with pallidal stimulation and an anoctamin-3 gene mutation. Long term outcomes seem to be favorable but larger case series are needed to confirm our findings.

| S-EPMC6906865 | biostudies-literature

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.