Article

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.
CI - (c) 2017 Mac Keith Press.

Langue : ANGLAIS