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 (2022). ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome. Parkinsonism & related disorders, 104, pp. 3-6. Elsevier 10.1016/j.parkreldis.2022.09.012
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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.
Item Type: |
Journal Article (Further Contribution) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology |
UniBE Contributor: |
Krack, Paul |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1353-8020 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
04 Oct 2022 12:57 |
Last Modified: |
05 Dec 2022 16:25 |
Publisher DOI: |
10.1016/j.parkreldis.2022.09.012 |
PubMed ID: |
36183459 |
BORIS DOI: |
10.48350/173483 |
URI: |
https://boris.unibe.ch/id/eprint/173483 |
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