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

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.

Source: Parkinsonism and Related Disorders - November 16, 2018 Category: Neurology Authors: Schirinzi Tommaso, Garone Giacomo, Travaglini Lorena, Vasco Gessica, Galosi Serena, Rios Loreto, Castiglioni Claudia, Barassi Claudia, Battaglia Domenica, Gambardella Maria Luigia, Cantonetti Laura, Graziola Federica, Marras Carlo Efisio, Castelli Enrico, Tags: Review article Source Type: research