Emerging Monogenic Complex Hyperkinetic Disorders

AbstractPurpose of ReviewHyperkinetic movement disorders can manifest alone or as part of complex phenotypes. In the era of next-generation sequencing (NGS), the list of monogenic complex movement disorders is rapidly growing. This review will explore the main features of these newly identified conditions.Recent FindingsMutations inADCY5 andPDE10A have been identified as important causes of childhood-onset dyskinesias andKMT2B mutations as one of the most frequent causes of complex dystonia in children. The delineation of the phenotypic spectrum associated with mutations inATP1A3,FOXG1,GNAO1,GRIN1,FRRS1L, andTBC1D24 is revealing an expanding genetic overlap between epileptic encephalopathies, developmental delay/intellectual disability, and hyperkinetic movement disorders,.SummaryThanks to NGS, the etiology of several complex hyperkinetic movement disorders has been elucidated. Importantly, NGS is changing the way clinicians diagnose these complex conditions. Shared molecular pathways, involved in early stages of brain development and normal synaptic transmission, underlie basal ganglia dysfunction, epilepsy, and other neurodevelopmental disorders.
Source: Current Neurology and Neuroscience Reports - Category: Neuroscience Source Type: research