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ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.
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.
Affiliation
  • 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.
  • Reale C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Castellani M; Nuclear Medicine Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
  • Colangelo I; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Orunesu E; Nuclear Medicine Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
  • Meoni S; Movement Disorders Unit, Division of Neurology, CHU Grenoble Alpes, Grenoble, France.
  • Moro E; Movement Disorders Unit, Division of Neurology, CHU Grenoble Alpes, Grenoble, France.
  • Krack P; Department of Neurology, Bern University Hospital and University of Bern, Bern, Switzerland.
  • Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany.
  • Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany.
  • Romito LM; Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: luigi.romito@istituto-besta.it.
  • Garavaglia B; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Parkinsonism Relat Disord ; 104: 3-6, 2022 11.
Article in En | MEDLINE | ID: mdl-36183459
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Atrophy / Actins / Parkinsonian Disorders / Deep Brain Stimulation / Dystonia / Deaf-Blind Disorders / Intellectual Disability Aspects: Patient_preference Limits: Female / Humans Language: En Journal: Parkinsonism Relat Disord Journal subject: NEUROLOGIA Year: 2022 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Atrophy / Actins / Parkinsonian Disorders / Deep Brain Stimulation / Dystonia / Deaf-Blind Disorders / Intellectual Disability Aspects: Patient_preference Limits: Female / Humans Language: En Journal: Parkinsonism Relat Disord Journal subject: NEUROLOGIA Year: 2022 Document type: Article Affiliation country: