Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review

Tommaso Schirinzi, Giacomo Garone, Lorena Travaglini, Gessica Vasco, Serena Galosi, Loreto Rios, Claudia Castiglioni, Claudia Barassi, Domenica Immacolata Battaglia, Maria Luigia Gambardella, Laura Cantonetti, Federica Graziola, Carlo Efisio Marras, Enrico Castelli, Enrico Bertini, Enrico Silvio Bertini, Alessandro Capuano, Vincenzo Leuzzi

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

16 Citazioni (Scopus)


GNAO1 variants were recently discovered as causes of epileptic encephalopathies and heterogeneous syndromes presenting with movement disorders (MDs), whose phenomenology and clinical course are yet undefined. We herein focused on GNAO1-related MD, providing an analytical review of existing data to outline the main MD phenomenology and management, clinical evolution and genotype-phenotype correlations. Reviewing 41 previously published patients and assessing 5 novel cases, a comprehensive cohort of 46 patients was analyzed, reassuming knowledge about genotypes, phenotypes, disease course and treatment of this condition. GNAO1-related MD consisted of a severe early-onset hyperkinetic syndrome, with prominent chorea, dystonia and orofacial dyskinesia. Symptoms are poorly responsive to medical therapy and fluctuate, with critical and life-threatening exacerbations, such as status dystonicus. The presence of a choreiform MD appears to be predictive of a higher risk of movement disorder emergency. Surgical treatments are sometimes effective, although severe disabilities persist. Differently from the early infantile epileptic encephalopathy phenotype (associated with loss of function variants), no clear correlation between genotype and MD phenotype emerged, although some variants recurred more frequently, mainly affecting exons 6 and 7.
Lingua originaleEnglish
pagine (da-a)19-25
Numero di pagine7
Stato di pubblicazionePubblicato - 2019


  • Age of Onset
  • Brain
  • Child, Preschool
  • Children movement disorders
  • Chorea
  • Disease Progression
  • Dyskinesias
  • Dystonia
  • Emergencies
  • Epilepsy
  • GNAO1
  • GTP-Binding Protein alpha Subunits, Gi-Go
  • Genetic Association Studies
  • Humans
  • Hyperkinesis
  • Infant
  • Movement Disorders
  • Movement disorder emergencies
  • Status dystonicus


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