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

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

doi:10.1016/j.parkreldis.2022.09.012

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

Parkinsonism Relat Disord. 2022 Nov:104:3-6. doi: 10.1016/j.parkreldis.2022.09.012. Epub 2022 Sep 24.

Authors

Affiliations

¹ Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Neurology and Stroke Unit, C.T.O. Hospital, A.O.R.N. "Ospedali dei Colli", Naples, Italy.
² Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
³ Nuclear Medicine Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
⁴ Movement Disorders Unit, Division of Neurology, CHU Grenoble Alpes, Grenoble, France.
⁵ Department of Neurology, Bern University Hospital and University of Bern, Bern, Switzerland.
⁶ Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany.
⁷ Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: luigi.romito@istituto-besta.it.

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

Abstract

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.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Actins*
Deaf-Blind Disorders* / genetics
Deaf-Blind Disorders* / therapy
Deep Brain Stimulation*
Dystonia* / genetics
Dystonia* / therapy
Female
Globus Pallidus / physiology
Humans
Intellectual Disability* / genetics
Intellectual Disability* / therapy
Mutation
Optic Atrophy* / genetics
Optic Atrophy* / therapy
Parkinsonian Disorders* / genetics
Parkinsonian Disorders* / therapy
Phenotype
Quality of Life
Treatment Outcome

Substances

Actins

Supplementary concepts

Mohr-Tranebjaerg syndrome