PuSH - Publication Server of Helmholtz Zentrum München: ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.

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Straccia, G.* ; Reale, C.* ; Castellani, M.* ; Colangelo, I.* ; Orunesu, E.* ; Meoni, S.* ; Moro, E.* ; Krack, P.* ; Prokisch, H. ; Zech, M. ; Romito, L.M.* ; Garavaglia, B.*

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

Parkinsonism Relat. Disord. 104, 3-6 (2022)

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Open Access Green as soon as Postprint is submitted to ZB.

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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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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

ISSN (print) / ISBN 1353-8020

e-ISSN 1873-5126

Journal Parkinsonism & Related Disorders

Quellenangaben Volume: 104, Pages: 3-6

Publisher Elsevier

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Neurogenomics (ING)

Grants Italian Ministry of Health (RRC)
Mariani Foundation
Horizon 2020 through the EJP RD project GENOMIT
Federal Ministry of Education & Research (BMBF)
German Research Foundation (DFG)