6 research outputs found
Immunoproteomic tools are used to identify masked allergens: Ole e 12, an allergenic isoflavone reductase from olive (Olea europaea) pollen
Highlighting the Dystonic Phenotype Related to GNAO1
BACKGROUND: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by earlyâonset epileptic encephalopathy and/or chorea. OBJECTIVE: The aim was to characterize the clinical and genetic features of patients with mild GNAO1ârelated phenotype with prominent movement disorders. METHODS: We included patients diagnosed with GNAO1ârelated movement disorders of delayed onset (>2âyears). Patients experiencing either severe or profound intellectual disability or earlyâonset epileptic encephalopathy were excluded. RESULTS: Twentyâfour 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 adulthoodâonset 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 GNAO1ârelated phenotype, including adolescentâonset 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 Societ