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

ABSTRACT: Background:Dystonia 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. Methods:We 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. Results:Ongoing 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. Conclusion:This 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.

SUBMITTER: Lasky L

PROVIDER: S-EPMC6906865 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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

Lasky Lizl L Bliss Lindsay L Sidiropoulos Christos C

Case reports in neurological medicine 20191129

<h4>Background</h4>Dystonia 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.<h4>Methods</h4>We 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.<h4>Results</h4 ...[more]

PMID: 31871801

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