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Article

ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.

Parkinsonism & related disorders - 1 Nov 2022

Straccia Giulia, Reale Chiara, Castellani Massimo, Colangelo Isabel, Orunesu Eva, Meoni Sara, Moro Elena, Krack Paul, Prokisch Holger, Zech Michael, Romito Luigi Michele, Garavaglia Barbara

Abstract excerpt

We report a Dystonia-Deafness syndrome patient treated by pallidal Deep Brain Stimulation with significant long-term benefits. Our study expands and confirms the complex phenotypic spectrum of ACTB gene-related disorders and supports the effectiveness of pallidal stimulation on motor outcomes and quality of life in dystonia due to ACTB p.Arg183Trp heterozygosity.

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PMID: 36183459
DOI: 10.1016/j.parkreldis.2022.09.012

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