Genetic and Epigenetic Mechanisms Underlying Cerebral Palsy: From Molecular Insights to Clinical Implications
摘要
Cerebral palsy (CP) is a heterogeneous disorder characterized by motor and cognitive disability. CP is influenced by but not limited to prenatal, perinatal, and neonatal risk factors. Recent research suggests a pathophysiological link between genetic and epigenetic changes with CP. The majority of these changes were seen in genes linked to neurodevelopment. Genetic mutation in KANK1 and genes encoding AP-4 complex are the most commonly reported etiology in multiple studies. At the same time, distinctive DNA methylation patterns have been documented between people with CP and those without the condition, whilst analogous DNA methylation has been noted between twins with CP. Identifying genes and their specific pathways leading to the pathogenesis of CP should guide future research aimed at therapeutics of this disability.