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The genetic basis of cerebral palsy
Author(s) -
Fahey Michael C,
Maclennan Alastair H,
Kretzschmar Doris,
Gecz Jozef,
Kruer Michael C
Publication year - 2017
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.13363
Subject(s) - autism , cerebral palsy , genetic architecture , copy number variation , intervention (counseling) , intellectual disability , neuroscience , genetic heterogeneity , genetic syndromes , medicine , bioinformatics , genetics , psychology , gene , biology , psychiatry , pediatrics , genome , phenotype
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.