Wirth, Thomas;
Garone, Giacomo;
Kurian, Manju A;
Piton, Amelie;
Millan, Francisca;
Telegrafi, Aida;
Drouot, Nathalie;
... Anheim, Mathieu; + view all
(2022)
Highlighting the Dystonic Phenotype Related to GNAO1.
Movement Disorders
10.1002/mds.29074.
(In press).
Preview |
PDF
Kurian_Highlighting the Dystonic Phenotype Related to GNAO1_AOP.pdf - Published Version Download (724kB) | Preview |
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.
| Type: | Article |
|---|---|
| Title: | Highlighting the Dystonic Phenotype Related to GNAO1 |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/mds.29074 |
| Publisher version: | https://doi.org/10.1002/mds.29074 |
| Language: | English |
| Additional information: | © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10150962 |
Archive Staff Only
 |
View Item |
