Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology

CL van Eyk, MC Fahey, J Gecz - Nature Reviews Neurology, 2023 - nature.com
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 …

Human cerebellar development and transcriptomics: implications for neurodevelopmental disorders

P Haldipur, KJ Millen, KA Aldinger - Annual review of …, 2022 - annualreviews.org
Developmental abnormalities of the cerebellum are among the most recognized structural
brain malformations in human prenatal imaging. Yet reliable information regarding their …

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy

DL Fehlings, M Zarrei, W Engchuan, N Sondheimer… - Nature …, 2024 - nature.com
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having …

Molecular diagnostic yield of exome sequencing and chromosomal microarray in cerebral palsy: a systematic review and meta-analysis

S Srivastava, SA Lewis, JS Cohen, B Zhang… - JAMA …, 2022 - jamanetwork.com
Importance There are many known acquired risk factors for cerebral palsy (CP), but in some
cases, CP is evident without risk factors (cryptogenic CP). Early CP cohort studies report a …

Diagnostic yield of exome sequencing in cerebral palsy and implications for genetic testing guidelines: a systematic review and meta-analysis

PJ Gonzalez-Mantilla, Y Hu, SM Myers… - JAMA …, 2023 - jamanetwork.com
Importance Exome sequencing is a first-tier diagnostic test for individuals with
neurodevelopmental disorders, including intellectual disability/developmental delay and …

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

M Chopra, DL Gable, J Love‐Nichols… - Annals of clinical …, 2022 - Wiley Online Library
Objectives Cerebral palsy (CP) is the most common childhood motor disability, yet its link to
single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we …

[HTML][HTML] Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies

JM Friedman, P van Essen… - Molecular genetics and …, 2022 - Elsevier
Cerebral palsy (CP) is a debilitating condition characterized by abnormal movement or
posture, beginning early in development. Early family and twin studies and more recent …

Uncertainties Regarding Cerebral Palsy Diagnosis: Opportunities to Clarify the Consensus Definition

BR Aravamuthan, DL Fehlings, I Novak… - Neurology: Clinical …, 2024 - neurology.org
Background and Objectives We have established that physicians, including neurologists,
variably diagnose cerebral palsy (CP) when using the most recent CP definition from 2006 …

Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis

SA Lewis, M Chopra, JS Cohen, JM Bain… - JAMA …, 2024 - jamanetwork.com
Importance Single gene variants can cause cerebral palsy (CP) phenotypes, yet the impact
of genetic diagnosis on CP clinical management has not been systematically evaluated …

Genetic investigations in cerebral palsy

AP Basu, K Low, T Ratnaike… - … Medicine & Child …, 2025 - Wiley Online Library
The original description of cerebral palsy (CP) contained case histories suggesting that
perinatal environmental stressors resulted in brain injury and neurodevelopmental disability …