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

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

Journal

Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583

Informations de publication

Date de publication:
11 2022
Historique:
received: 31 07 2022
revised: 18 09 2022
accepted: 20 09 2022
pubmed: 3 10 2022
medline: 18 11 2022
entrez: 2 10 2022
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.parkreldis.2022.09.012 PMID: 36183459
pubmed: 36183459
pii: S1353-8020(22)00314-5
doi: 10.1016/j.parkreldis.2022.09.012
pii:
doi:

Substances chimiques

Actins 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

3-6

Informations de copyright

Copyright © 2022 Elsevier Ltd. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare that they have no conflict of interest.

Auteurs

Giulia Straccia (G)

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.

Chiara Reale (C)

Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Massimo Castellani (M)

Nuclear Medicine Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.

Isabel Colangelo (I)

Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Eva Orunesu (E)

Nuclear Medicine Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.

Sara Meoni (S)

Movement Disorders Unit, Division of Neurology, CHU Grenoble Alpes, Grenoble, France.

Elena Moro (E)

Movement Disorders Unit, Division of Neurology, CHU Grenoble Alpes, Grenoble, France.

Paul Krack (P)

Department of Neurology, Bern University Hospital and University of Bern, Bern, Switzerland.

Holger Prokisch (H)

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany.

Michael Zech (M)

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany.

Luigi Michele Romito (LM)

Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: luigi.romito@istituto-besta.it.

Barbara Garavaglia (B)

Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › ACTB gene mutation in combined...
questionsmedicales.fr › Procédures de chirurgie opératoire › Stimulation cérébrale profonde › ACTB gene mutation in combined...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Dystonie › ACTB gene mutation in combined...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Prosencéphale › Télencéphale › Cerveau › Noyaux gris centraux › Corps strié › Globus pallidus › ACTB gene mutation in combined...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › ACTB gene mutation in combined...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Troubles de la motricité › Syndromes parkinsoniens › ACTB gene mutation in combined...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › ACTB gene mutation in combined...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Mesures épidémiologiques › Démographie › État de santé › Qualité de vie › ACTB gene mutation in combined...
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Qualité des soins de santé › Mécanismes d'évaluation des soins de santé › Évaluation des résultats et des processus en soins de santé › Évaluation de résultat (soins) › Résultat thérapeutique › ACTB gene mutation in combined...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle › ACTB gene mutation in combined...
questionsmedicales.fr › Maladies de l'oeil › Atteintes du nerf optique › Atrophie optique › ACTB gene mutation in combined...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Troubles sensitifs › Troubles de la vision › Cécité › Surdité-cécité › ACTB gene mutation in combined...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines des microfilaments › Actines › ACTB gene mutation in combined...