The genetic basis of cerebral palsy. (1st January 2017)

• Record Type: Journal Article
• Authors: Fahey, Michael C; Maclennan, Alastair H; Kretzschmar, Doris; Gecz, Jozef; Kruer, Michael C
• Is Part Of: Developmental medicine & child neurology. Volume 59:Number 5(2017)
• Page Start: 462
• Page End: 469
• Publication Date: 2017-01-01
• Subjects: Child development -- Periodicals; Pediatric neurology -- Periodicals; 616.8
• DOI: 10.1111/dmcn.13363
• Languages: English
• ISSNs: 0012-1622

Abstract

Abstract : Although prematurity and hypoxic–ischaemic injury are well‐recognized contributors to the pathogenesis of cerebral palsy (CP), as many as one‐third of children with CP may lack traditional risk factors. For many of these children, a genetic basis to their condition is suspected. Recent findings have implicated copy number variants and mutations in single genes in children with CP. Current studies are limited by relatively small patient numbers, the underlying genetic heterogeneity identified, and the paucity of validation studies that have been performed. However, several genes mapping to intersecting pathways controlling neurodevelopment and neuronal connectivity have been identified. Analogous to other neurodevelopmental disorders such as autism and intellectual disability, the genomic architecture of CP is likely to be highly complex. Although we are just beginning to understand genetic contributions to CP, new insights are anticipated to serve as a unique window into the neurobiology of CP and suggest new targets for intervention. What this paper adds: Genetics may play a major role in the etiology of cerebral palsy. Although cerebral palsy is proving genetically heterogeneous, converging gene networks are emerging, implicating new therapeutic targets.