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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)
DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Letter to the Editor
ISSN (print) / ISBN 1353-8020
e-ISSN 1873-5126
Quellenangaben Band: 104, Heft: , Seiten: 3-6 Artikelnummer: , Supplement: ,
Verlag Elsevier
Begutachtungsstatus Peer reviewed
Förderungen 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)