Highlighting the Dystonic Phenotype Related to GNAO1
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 diso...
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| Published in | Movement disorders Vol. 37; no. 7; pp. 1547 - 1554 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Hoboken, USA
John Wiley & Sons, Inc
01.07.2022
Wiley Subscription Services, Inc Wiley |
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| Abstract | 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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| AbstractList | Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.
The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders.
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.
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.
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. 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. BackgroundMost reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early‐onset epileptic encephalopathy and/or chorea.ObjectiveThe aim was to characterize the clinical and genetic features of patients with mild GNAO1‐related phenotype with prominent movement disorders.MethodsWe 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.ResultsTwenty‐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.ConclusionWe 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 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 Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.BACKGROUNDMost reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders.OBJECTIVEThe aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders.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.METHODSWe 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.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.RESULTSTwenty-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.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.CONCLUSIONWe 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. |
| Author | Wirth, Thomas Barnicoat, Angela Calmels, Nadège Joriot, Sylvie Rudolf, Gabrielle Demailly, Diane Ghoumid, Jamal Marks, Warren Ewenczyk, Claire Kurian, Manju A. Nowak, Catherine Cif, Laura Piton, Amélie Doummar, Diane Smith, Martin Belin, Jérémie Mignot, Cyril Millan, Francisca Parnes, Mered Lin, Jean‐Pierre Blumkin, Lubov Keren, Boris Steel, Dora Coubes, Phillipe Castro‐Jimenez, Mayte Tranchant, Christine Faucheux, Jean‐Marc Anheim, Mathieu Telegrafi, Aida Roze, Emmanuel Capuano, Alessandro Nemeth, Andrea H. Beroud, Christophe Poulen, Gaëtan Burglen, Lydie Acosta, Fernando Chelly, Jamel Vidailhet, Marie Ravelli, Claudia Hull, Mariam Garone, Giacomo Drouot, Nathalie Wilson, William G. Méneret, Aurélie |
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| Cites_doi | 10.1007/s10048-019-00599-w 10.1038/gim.2015.30 10.1523/JNEUROSCI.0676-04.2004 10.1007/s10048-022-00686-5 10.1177/0883073818756134 10.1177/0883073815587945 10.1002/mds.27771 10.1016/j.celrep.2021.108718 10.1080/14737175.2021.1840978 10.1016/j.ajhg.2020.06.013 10.1002/mds.28485 10.1016/j.parkreldis.2020.04.003 10.1111/epi.14653 10.1016/j.ajhg.2012.10.024 10.1002/mds.27694 10.1016/j.ajhg.2013.07.014 10.1038/ng.2496 10.1002/humu.22844 10.1093/brain/awaa304 10.1016/j.nbd.2018.05.005 10.1016/j.ejmg.2020.103878 10.1016/j.jns.2018.05.018 10.3389/fgene.2019.01026 10.1016/j.pediatrneurol.2016.02.018 10.1016/j.parkreldis.2018.11.019 10.1016/j.jns.2020.116710 10.1212/NXG.0000000000000143 |
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| Copyright | 2022 The Authors. published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. 2022. This article is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. Attribution |
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| Keywords | GNAO1 mutation phenotypes dystonia Phenotypes Mutation Dystonia |
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| Notes | Laura Cif, Diane Doummar, and Mathieu Anheim contributed equally to this work and should be considered as co‐last authors. Funding agencies Thomas Wirth and Giacomo Garone contributed equally to this work and should be considered as co‐first authors. Relevant conflicts of interest/financial disclosures: None. T.W. was funded by a grant from the Revue Neurologique for this work. The study was partly supported by a grant provided by France Parkinson. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 PMCID: PMC9545634 |
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| References | 2015; 36 2021; 21 2015; 17 2017; 3 2020; 63 2019; 10 2020; 143 2013; 45 2019; 34 2004; 24 2022; 23 2016; 31 2013; 93 2020; 107 2016; 59 2021; 36 2012; 91 2019; 60 2021; 34 2019; 61 2018; 116 2020; 74 2019; 21 2020; 411 2020; 21 2018; 33 2018; 15 e_1_2_9_11_1 e_1_2_9_10_1 e_1_2_9_13_1 e_1_2_9_12_1 Valence S (e_1_2_9_14_1) 2019; 21 e_1_2_9_15_1 e_1_2_9_17_1 e_1_2_9_16_1 e_1_2_9_19_1 e_1_2_9_18_1 e_1_2_9_20_1 e_1_2_9_22_1 e_1_2_9_21_1 e_1_2_9_24_1 e_1_2_9_23_1 e_1_2_9_8_1 e_1_2_9_7_1 e_1_2_9_6_1 e_1_2_9_5_1 e_1_2_9_4_1 e_1_2_9_3_1 e_1_2_9_2_1 e_1_2_9_9_1 e_1_2_9_26_1 e_1_2_9_25_1 e_1_2_9_28_1 e_1_2_9_27_1 e_1_2_9_29_1 36273395 - Mov Disord. 2022 Dec;37(12):2464-2466 36533587 - Mov Disord. 2022 Dec;37(12):2466-2467 |
| References_xml | – volume: 24 start-page: 7007 issue: 31 year: 2004 end-page: 7014 article-title: Persistent increase in olfactory type G‐protein alpha subunit levels may underlie D1 receptor functional hypersensitivity in Parkinson disease publication-title: J Neurosci Off J Soc Neurosci – volume: 36 start-page: 928 issue: 10 year: 2015 end-page: 930 article-title: GeneMatcher: a matching tool for connecting investigators with an interest in the same gene publication-title: Hum Mutat – volume: 34 start-page: 108718 issue: 5 year: 2021 article-title: Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders publication-title: Cell Rep – volume: 116 start-page: 131 year: 2018 end-page: 141 article-title: A mechanistic review on GNAO1‐associated movement disorder publication-title: Neurobiol Dis – volume: 34 start-page: 1516 issue: 10 year: 2019 end-page: 1527 article-title: Frequency and phenotypic spectrum of KMT2B dystonia in childhood: a single‐center cohort study publication-title: Mov Disord – volume: 10 start-page: 1026 year: 2019 article-title: Diagnostic yield of a targeted next‐generation sequencing gene panel for pediatric‐onset movement disorders: a 3‐year cohort study publication-title: Front Genet – volume: 45 start-page: 88 issue: 1 year: 2013 end-page: 92 article-title: Mutations in GNAL cause primary torsion dystonia publication-title: Nat Genet – volume: 21 start-page: 81 issue: 1 year: 2021 end-page: 97 article-title: Current challenges in the pathophysiology, diagnosis, and treatment of paroxysmal movement disorders publication-title: Expert Rev Neurother – volume: 143 start-page: 3242 issue: 11 year: 2020 end-page: 3261 article-title: KMT2B‐related disorders: expansion of the phenotypic spectrum and long‐term efficacy of deep brain stimulation publication-title: Brain J Neurol – volume: 61 start-page: 19 year: 2019 end-page: 25 article-title: Phenomenology and clinical course of movement disorder in GNAO1 variants: results from an analytical review publication-title: Parkinsonism Relat Disord – volume: 74 start-page: 50 year: 2020 end-page: 56 article-title: Increased diagnostic yield in complex dystonia through exome sequencing publication-title: Parkinsonism Relat Disord – volume: 17 start-page: 405 issue: 5 year: 2015 end-page: 424 article-title: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology publication-title: Genet Med Off J Am Coll Med Genet – volume: 3 issue: 2 year: 2017 article-title: GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome publication-title: Neurol Genet – volume: 33 start-page: 413 issue: 6 year: 2018 end-page: 416 article-title: GNAO1 mutation‐induced pediatric dystonic storm rescue with Pallidal deep brain stimulation publication-title: J Child Neurol – volume: 23 issue: 2 year: 2022 article-title: An intronic GNAO1 variant leading to in‐frame insertion cause movement disorder controlled by deep brain stimulation publication-title: Neurogenetics – volume: 91 start-page: 1041 issue: 6 year: 2012 end-page: 1050 article-title: Mutations in ANO3 cause dominant Craniocervical dystonia: Ion Channel implicated in pathogenesis publication-title: Am J Hum Genet – volume: 93 start-page: 496 issue: 3 year: 2013 end-page: 505 article-title: De novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy publication-title: Am J Hum Genet – volume: 411 start-page: 116710 year: 2020 article-title: Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1‐associated movement disorder: a case report publication-title: J Neurol Sci – volume: 21 start-page: 67 issue: 1 year: 2020 end-page: 72 article-title: Neurodevelopmental phenotype associated with CHD8‐SUPT16H duplication publication-title: Neurogenetics – volume: 21 start-page: 553 issue: 3 year: 2019 end-page: 563 article-title: Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies publication-title: Genet Med Off J Am Coll Med Genet – volume: 15 start-page: 31 issue: 391 year: 2018 end-page: 39 article-title: Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia publication-title: J Neurol Sci – volume: 59 start-page: 81 year: 2016 end-page: 84 article-title: Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder publication-title: Pediatr Neurol – volume: 34 start-page: 923 issue: 6 year: 2019 end-page: 924 article-title: A novel GNAL mutation in familial dystonia presenting with childhood tremor and myoclonus publication-title: Mov Disord Off J Mov Disord Soc – volume: 60 start-page: 406 issue: 3 year: 2019 end-page: 418 article-title: Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate‐binding region publication-title: Epilepsia – volume: 63 start-page: 103878 issue: 6 year: 2020 article-title: Two cases of 16q12.1q21 deletions and refinement of the critical region publication-title: Eur J Med Genet – volume: 31 start-page: 211 issue: 2 year: 2016 end-page: 214 article-title: Progressive movement disorder in brothers carrying a GNAO1 mutation responsive to deep brain stimulation publication-title: J Child Neurol – volume: 107 start-page: 352 issue: 2 year: 2020 end-page: 363 article-title: De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial Dysmorphism publication-title: Am J Hum Genet – volume: 36 start-page: 1086 issue: 5 year: 2021 end-page: 1103 article-title: Genotype‐phenotype relations for isolated dystonia genes: MDSGene systematic review publication-title: Mov Disord Off J Mov Disord Soc – ident: e_1_2_9_16_1 doi: 10.1007/s10048-019-00599-w – ident: e_1_2_9_17_1 doi: 10.1038/gim.2015.30 – ident: e_1_2_9_25_1 doi: 10.1523/JNEUROSCI.0676-04.2004 – ident: e_1_2_9_18_1 doi: 10.1007/s10048-022-00686-5 – ident: e_1_2_9_20_1 doi: 10.1177/0883073818756134 – ident: e_1_2_9_4_1 doi: 10.1177/0883073815587945 – ident: e_1_2_9_9_1 doi: 10.1002/mds.27771 – ident: e_1_2_9_29_1 doi: 10.1016/j.celrep.2021.108718 – ident: e_1_2_9_7_1 doi: 10.1080/14737175.2021.1840978 – ident: e_1_2_9_13_1 doi: 10.1016/j.ajhg.2020.06.013 – ident: e_1_2_9_24_1 doi: 10.1002/mds.28485 – ident: e_1_2_9_11_1 doi: 10.1016/j.parkreldis.2020.04.003 – ident: e_1_2_9_8_1 doi: 10.1111/epi.14653 – ident: e_1_2_9_23_1 doi: 10.1016/j.ajhg.2012.10.024 – ident: e_1_2_9_22_1 doi: 10.1002/mds.27694 – ident: e_1_2_9_2_1 doi: 10.1016/j.ajhg.2013.07.014 – ident: e_1_2_9_21_1 doi: 10.1038/ng.2496 – ident: e_1_2_9_12_1 doi: 10.1002/humu.22844 – volume: 21 start-page: 553 issue: 3 year: 2019 ident: e_1_2_9_14_1 article-title: Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies publication-title: Genet Med Off J Am Coll Med Genet – ident: e_1_2_9_15_1 doi: 10.1093/brain/awaa304 – ident: e_1_2_9_6_1 doi: 10.1016/j.nbd.2018.05.005 – ident: e_1_2_9_28_1 doi: 10.1016/j.ejmg.2020.103878 – ident: e_1_2_9_27_1 doi: 10.1016/j.jns.2018.05.018 – ident: e_1_2_9_10_1 doi: 10.3389/fgene.2019.01026 – ident: e_1_2_9_19_1 doi: 10.1016/j.pediatrneurol.2016.02.018 – ident: e_1_2_9_3_1 doi: 10.1016/j.parkreldis.2018.11.019 – ident: e_1_2_9_26_1 doi: 10.1016/j.jns.2020.116710 – ident: e_1_2_9_5_1 doi: 10.1212/NXG.0000000000000143 – reference: 36533587 - Mov Disord. 2022 Dec;37(12):2466-2467 – reference: 36273395 - Mov Disord. 2022 Dec;37(12):2464-2466 |
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Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early‐onset epileptic encephalopathy and/or chorea.... Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea. The aim was to... BackgroundMost reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early‐onset epileptic encephalopathy and/or... Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.BACKGROUNDMost... Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or... |
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| SubjectTerms | Basal ganglia Central nervous system diseases Chorea Dystonia Dystonia - genetics Dystonic Disorders Dystonic Disorders - genetics Encephalopathy Epilepsy Genetics Genotype & phenotype GNAO1 GTP-Binding Protein alpha Subunits, Gi-Go - genetics GTP-Blinding Protein alpha Subinits, Gi-Go Humans Intellectual disabilities Life Sciences Movement Disorders Movement Disorders - genetics mutation Myoclonus Neurons and Cognition Parkinsonian Disorders Parkinsonian Disorders - genetics Patients Phenotype Phenotypes |
| Title | Highlighting the Dystonic Phenotype Related to GNAO1 |
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