Premium
Highlighting the Dystonic Phenotype Related to GNAO1
Author(s) -
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 Phillipe,
CastroJimenez Mayte,
Joriot Sylvie,
Ghoumid Jamal,
Belin Jérémie,
Faucheux JeanMarc,
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,
Beroud Christophe,
Acosta Fernando,
Nowak Catherine,
Wilson William G.,
Steel Dora,
Capuano Alessandro,
Vidailhet Marie,
Lin JeanPierre,
Tranchant Christine,
Cif Laura,
Doummar Diane,
Anheim Mathieu
Publication year - 2022
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.29074
Subject(s) - phenotype , neuroscience , dystonia , medicine , psychology , biology , genetics , gene
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