Highlighting the Dystonic Phenotype Related to GNAO1

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المؤلفون: Acosta, Fernando; Nowak, Catherine; Wilson, William G.; Steel, Dora; Wirth, Thomas; Garone, Giacomo; Kurian, Manju, A.; Piton, Amélie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Philippe; Jimenez, Mayté, Castro; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jérémie; Faucheux, Jean-Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaëtan; Calmels, Nadège; Nemeth, Andrea H.; Smith, Martin; Barnicoat, Angela; Ewenczyk, Claire; Méneret, Aurélie; Roze, Emmanuel; Keren, Boris; Mignot, Cyril; Béroud, Christophe; Wilson, William; Capuano, Alessandro; Vidailhet, Marie; Lin, Jean-Pierre; Tranchant, Christine; Cif, Laura; Doummar, Diane; Anheim, Mathieu
المصدر:
ISSN: 0885-3185.
الموضوع:
GNAO1; Dystonia; Mutation; Phenotypes; MESH: Dystonia; MESH: Dystonic Disorders; MESH: GTP-Blinding Protein alpha Subinits; Gi-Go; MESH: Humans; MESH: Movement Disorders; MESH: Parkinsonian Disorders; MESH: Phenotype; [SDV.GEN]Life Sciences [q-bio]/Genetics; [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
نوع التسجيلة:
article in journal/newspaper
اللغة:
English

معلومة اضافية
- Contributors:
  Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC); Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS); Fédération de Médecine Translationnelle de Strasbourg (FMTS); Université de Strasbourg (UNISTRA); Centre for Integrative Biology - CBI (Inserm U964 - CNRS UMR7104 - IGBMC); Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS); Les Hôpitaux Universitaires de Strasbourg (HUS); University of Rome "Tor Vergeta"; Università degli Studi di Roma Tor Vergata Roma = University of Rome Tor Vergata; IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital; Institute of Child Health London; University College of London London (UCL); Laboratoire de Diagnostic Génétique CHU Strasbourg; Université de Strasbourg (UNISTRA)-Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg); Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS); GeneDx Gaithersburg, MD, USA; University of North Texas Health Science Center Fort Worth; Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163); Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité); CHU Trousseau APHP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU); Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier); Institut de Génomique Fonctionnelle (IGF); Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM); Université de Lausanne = University of Lausanne (UNIL); Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV); Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille); Faculté de Médecine Henri Warembourg - Université de Lille; Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME); Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille); CHU Trousseau Tours; Centre Hospitalier Régional Universitaire de Tours (CHRU Tours); Centre Hospitalier Agen-Nérac; Tel Aviv University (TAU); Texas Children's Hospital Houston, USA; Mécanismes moléculaires dans les démences neurodégénératives (MMDN); École Pratique des Hautes Études (EPHE); Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM); Laboratoire de Génétique Médicale (LGM); Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM); Oxford University Hospitals NHS Trust; University of Oxford; Great Ormond Street Hospital for Children London (GOSH); Institut du Cerveau = Paris Brain Institute (ICM); Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS); CHU Pitié-Salpêtrière AP-HP; Marseille medical genetics - Centre de génétique médicale de Marseille (MMG); Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM); Département de génétique médicale Hôpital de la Timone - APHM; Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM); Boston Children's Hospital; University of Virginia; Evelina London Children's Hospital; Sorbonne Université (SU)
- بيانات النشر:
  HAL CCSD
  Wiley
- الموضوع:
  2022
- Collection:
  Université de Montpellier: HAL
- نبذة مختصرة :
  International audience ; Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.Objective: The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders.Methods: We included patients diagnosed with GNAO1-related movement disorders of delayed onset (>2 years). Patients experiencing either severe or profound intellectual disability or early-onset epileptic encephalopathy were excluded.Results: Twenty-four patients and 1 asymptomatic subject were included. All patients showed dystonia as prominent movement disorder. Dystonia was focal in 1, segmental in 6, multifocal in 4, and generalized in 13. Six patients showed adolescence or adulthood-onset dystonia. Seven patients presented with parkinsonism and 3 with myoclonus. Dysarthria was observed in 19 patients. Mild and moderate ID were present in 10 and 2 patients, respectively.Conclusion: We highlighted a mild GNAO1-related phenotype, including adolescent-onset dystonia, broadening the clinical spectrum of this condition. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
- Relation:
  info:eu-repo/semantics/altIdentifier/pmid/35722775; hal-03780376; https://amu.hal.science/hal-03780376; https://amu.hal.science/hal-03780376/document; https://amu.hal.science/hal-03780376/file/Movement%20Disorders%20-%202022%20-%20Wirth%20-%20Highlighting%20the%20Dystonic%20Phenotype%20Related%20to%20GNAO1.pdf; PUBMED: 35722775; PUBMEDCENTRAL: PMC9545634; WOS: 000812966100001
- الرقم المعرف:
  10.1002/mds.29074
- Rights:
  http://creativecommons.org/licenses/by/ ; info:eu-repo/semantics/OpenAccess
- الرقم المعرف:
  edsbas.3B7719D7

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