ArticleMovement disorders : official journal of the Movement Disorder Society2022
Highlighting the Dystonic Phenotype Related to GNAO1.
Article in Movement disorders : official journal of the Movement Disorder Society, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34 citing papers in PubMed, 58 citations in OpenAlex.
- Safety and feasibility of oral zinc for patients withEClinicalMedicine · 2026Article
- Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.Annals of neurology · 2026Article
- Small-molecule inhibitor of Gαo for GNAO1 encephalopathy.Bioscience reports · 2026Article
- Modulation of striatal cAMP levels: A key pathway in the treatment of hyperkinetic movement disorders.iScience · 2026Article
- Pathogenic Gαo Mutants Drive Dominant GPCR Coupling in GNAO1 Encephalopathies.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights.Molecular autism · 2025Article
- Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies.Epilepsy currents · 2025Review
- Severe upper airway dysfunction in GNAO1-related disorders.Italian journal of pediatrics · 2025Article
- Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.Movement disorders clinical practice · 2025Article
- [Neurodevelopmental and Movement Disorder Due to a Mutation in the GNAO1 Gene: A Case Report].Revista de neurologia · 2025Article
- Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.EMBO molecular medicine · 2025Review
- Clinical-molecular profiling of atypicalGenes & diseases · 2025Article
- Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum.Orphanet journal of rare diseases · 2025Article
- Rare GNAO1 Variant Presenting with Deep Brain Stimulation-Responsive Jaw-Opening Dystonia.Movement disorders clinical practice · 2025Article
- Rare Movement Disorders-An Approach for Clinicians.International journal of molecular sciences · 2025Review
- Novel Mutation at Cys225 inMedComm · 2025Article
- Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.Annals of neurology · 2025Review
- Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder.Molecular therapy. Nucleic acids · 2025Article
- The Spectrum of GNAO1 Mutation Can Include Childhood-Onset Isolated Generalized Dystonia.Movement disorders clinical practice · 2025Article
- GαJournal of neurochemistry · 2025Article
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44 authors at 20 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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