ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome-Reference-Cited by-同舟云学术

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

Published:2022-11 Issue: Volume:104 Page:3-6
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

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

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference5 articles.

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2. A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia;Procaccio;Am. J. Hum. Genet.,2006

3. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases;Verloes;Eur. J. Hum. Genet.,2015

4. Dystonia-deafness syndrome: ACTB pathogenic variant in an argentinean family;Zavala;Mov Disord Clin Pract,2022

5. Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation;Skogseid;J. Neurodev. Disord.,2018

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