TY - JOUR
T1 - Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology
AU - van Eyk, Clare L.
AU - Fahey, Michael C.
AU - Gecz, Jozef
N1 - Funding Information:
The authors thank T. Kroes and D. Fornarino for their assistance with the initial curation of cerebral palsy gene lists. J.G. is supported by NHMRC Senior Research Fellowship ID1155224 and C.L.v.E. is supported by The Hospital Research Foundation Fellowship C-MCF-48-2019.
Publisher Copyright:
© 2023, Springer Nature Limited.
PY - 2023/9
Y1 - 2023/9
N2 - Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-degenerative disorders of motor function. Around one-third of cases have now been shown to have an underlying genetic aetiology, with the genetic landscape overlapping with those of neurodevelopmental disorders including intellectual disability, epilepsy, speech and language disorders and autism. Here we review the current state of genomic testing in cerebral palsy, highlighting the benefits for personalized medicine and the imperative to consider aetiology during clinical diagnosis. With earlier clinical diagnosis now possible, we emphasize the opportunity for comprehensive and early genomic testing as a crucial component of the routine diagnostic work-up in people with cerebral palsy.
AB - Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-degenerative disorders of motor function. Around one-third of cases have now been shown to have an underlying genetic aetiology, with the genetic landscape overlapping with those of neurodevelopmental disorders including intellectual disability, epilepsy, speech and language disorders and autism. Here we review the current state of genomic testing in cerebral palsy, highlighting the benefits for personalized medicine and the imperative to consider aetiology during clinical diagnosis. With earlier clinical diagnosis now possible, we emphasize the opportunity for comprehensive and early genomic testing as a crucial component of the routine diagnostic work-up in people with cerebral palsy.
UR - https://www.scopus.com/pages/publications/85166654662
U2 - 10.1038/s41582-023-00847-6
DO - 10.1038/s41582-023-00847-6
M3 - Review article
C2 - 37537278
AN - SCOPUS:85166654662
SN - 1759-4758
VL - 19
SP - 542
EP - 555
JO - Nature Reviews Neurology
JF - Nature Reviews Neurology
IS - 9
ER -