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Article Dans Une Revue Movement Disorders Année : 2022

Highlighting the Dystonic Phenotype Related to GNAO1

1 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire
2 FMTS - Fédération de Médecine Translationnelle de Strasbourg
3 Inserm U964 - CNRS UMR7104 - IGBMC - Centre for Integrative Biology - CBI
4 HUS - Les Hôpitaux Universitaires de Strasbourg
5 University of Rome "Tor Vergeta"
6 IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital
7 Institute of Child Health [London]
8 Laboratoire de Diagnostic Génétique [CHU Strasbourg]
9 GeneDx [Gaithersburg, MD, USA]
10 University of North Texas Health Science Center [Fort Worth]
11 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
12 CHU Trousseau [APHP]
13 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
14 IGF - Institut de Génomique Fonctionnelle
15 UNIL - Université de Lausanne = University of Lausanne
16 CHUV - Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital [Lausanne]
17 CHRU Lille - Centre Hospitalier Régional Universitaire [CHU Lille]
18 Faculté de Médecine Henri Warembourg - Université de Lille
19 RADEME - Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364
20 CHU Trousseau [Tours]
21 Centre Hospitalier Agen-Nérac
22 TAU - Tel Aviv University
23 Texas Children's Hospital [Houston, USA]
24 MMDN - Mécanismes moléculaires dans les démences neurodégénératives
25 LGM - Laboratoire de Génétique Médicale
26 Oxford University Hospitals NHS Trust
27 GOSH - Great Ormond Street Hospital for Children [London]
28 ICM - Institut du Cerveau = Paris Brain Institute
29 CHU Pitié-Salpêtrière [AP-HP]
30 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
31 Département de génétique médicale [Hôpital de la Timone - APHM]
32 Boston Children's Hospital
33 University of Virginia
34 Evelina London Children's Hospital
35 SU - Sorbonne Université
Fernando Acosta
  • Fonction : Auteur
Catherine Nowak
  • Fonction : Auteur
William G. Wilson
  • Fonction : Auteur
Dora Steel
  • Fonction : Auteur
Manju A. Kurian
Martin Smith
  • Fonction : Auteur
  • PersonId : 1096687
William Wilson
  • Fonction : Auteur
  • PersonId : 1201631
Diane Doummar

Résumé

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.
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Dates et versions

hal-03780376 , version 1 (24-02-2023)

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Paternité

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Fernando Acosta, Catherine Nowak, William G. Wilson, Dora Steel, Thomas Wirth, et al.. Highlighting the Dystonic Phenotype Related to GNAO1. Movement Disorders, 2022, 37 (7), pp.1547-1554. ⟨10.1002/mds.29074⟩. ⟨hal-03780376⟩
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