ArticleNeuromolecular medicine2014
A diagnostic approach for cerebral palsy in the genomic era.
Article in Neuromolecular medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 107 citations in OpenAlex.
- Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review.Orphanet journal of rare diseases · 2014Pooled it
- A Phenotypic Paradigm for Cerebral Palsy Genetics.medRxiv : the preprint server for health sciences · 2026Article
- Unravelling genetic etiology of cerebral palsy: findings from a Slovenian pediatric cohort.Frontiers in neurology · 2025Article
- Genetics of Cerebral Palsy: Diagnosis, Differential Diagnosis, and Beyond.Annals of rehabilitation medicine · 2024Article
- Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.Nature medicine · 2024Article
- Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.Annals of clinical and translational neurology · 2024Article
- Mimickers of hypoxic-ischaemic brain injury in term neonates: What the radiologist should know.SA journal of radiology · 2024Review
- Cerebral Palsy - Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention.BMC pediatrics · 2023Article
- Function and dysfunction of the dystonia network: an exploration of neural circuits that underlie the acquired and isolated dystonias.Dystonia (Lausanne, Switzerland) · 2023Article
- Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes.Molecular genetics and metabolism · 2022Review
- Mendelian etiologies identified with whole exome sequencing in cerebral palsy.Annals of clinical and translational neurology · 2022Article
- Genetic testing in individuals with cerebral palsy.Developmental medicine and child neurology · 2021Article
- Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.NPJ genomic medicine · 2021Article
- Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.Brain sciences · 2021Article
- Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example.Frontiers in neurology · 2021Article
- Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.Frontiers in pediatrics · 2021Article
- Principles of Medical and Surgical Treatment of Cerebral Palsy.Neurologic clinics · 2020Review
- Ataxic-hypotonic cerebral palsy in a cerebral palsy registry: Insights into a distinct subtype.Neurology. Clinical practice · 2020Article
- Genetic Counseling in Neurodevelopmental Disorders.Cold Spring Harbor perspectives in medicine · 2020Review
- Cerebral palsy in Canada, 2011-2031: results of a microsimulation modelling study of epidemiological and cost impacts.Health promotion and chronic disease prevention in Canada : research, policy and practice · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as cerebral palsy (CP). To help distinguish patients in these two groups, conventional magnetic resonance imaging of the brain has been of great benefit in "unmasking" many of these genetic etiologies and has provided important clues to differential diagnosis in others. Recent advances in molecular genetics such as chromosomal microarray and next-generation sequencing have further revolutionized the understanding of etiology by more precisely classifying these disorders with a molecular cause. In this paper, we present a review of neurogenetic disorders masquerading as cerebral palsy evaluated at one institution. We have included representative case examples children presenting with dyskinetic, spastic, and ataxic phenotypes, with the intent to highlight the time-honored approach of using clinical tools of history and examination to focus the subsequent etiologic search with advanced neuroimaging modalities and molecular genetic tools. A precise diagnosis of these masqueraders and their differentiation from CP is important in terms of therapy, prognosis, and family counseling. In summary, this review serves as a continued call to remain vigilant for current and other to-be-discovered neurogenetic masqueraders of cerebral palsy, thereby optimizing care for patients and their families.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.