The emerging genetic landscape of cerebral palsy

C L van Eyk; M A Corbett; A H Maclennan

doi:10.1016/B978-0-444-63233-3.00022-1

The emerging genetic landscape of cerebral palsy

Handb Clin Neurol. 2018:147:331-342. doi: 10.1016/B978-0-444-63233-3.00022-1.

Authors

C L van Eyk¹, M A Corbett², A H Maclennan³

Affiliations

¹ Australian Collaborative Cerebral Palsy Research Group, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. Electronic address: clare.vaneyk@adelaide.edu.au.
² Australian Collaborative Cerebral Palsy Research Group, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.
³ Australian Collaborative Cerebral Palsy Research Group, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia.

PMID: 29325622
DOI: 10.1016/B978-0-444-63233-3.00022-1

Abstract

Cerebral palsy (CP) is a broad clinical descriptor that encompasses a heterogeneous group of nonprogressive neurodevelopmental disabilities affecting movement and posture. While linked by the presence of damage to the developing brain, the etiology of CP is likely varied and the clinical outcomes are diverse. There is now a large body of evidence supporting a significant role for genetics in causation of CP. An increasing number of studies have identified likely causative genetic variants in families with CP, as well as in individual sporadic cases. Next-generation sequencing is now aiding clinicians in making specific molecular diagnoses, providing future opportunities for tailored treatments and for informed reproductive decisions.

Keywords: cerebral palsy; copy number variation; genetics; heterogeneity; neurodevelopment; next-generation sequencing; polymorphism.

Publication types

Review

MeSH terms

Cerebral Palsy / diagnosis*
Cerebral Palsy / genetics*
Genetic Variation / genetics*
Humans
Sequence Analysis, DNA