ArticleAnnals of clinical and translational neurology2018
Genomic analysis identifies masqueraders of full-term cerebral palsy.
Article in Annals of clinical and translational neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 95 citations in OpenAlex.
- A Systematic Review of Cognitive and Behavioural Symptoms in CTNNB1 Syndrome.Neuropsychology review · 2026Pooled it
- Genomic findings in non-cryptogenic cerebral palsy: a systematic review and meta-analysis.Frontiers in neurologyPooled it
- Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations.Journal of autism and developmental disorders · 2026Article
- Neurodevelopmental alterations are key drivers of SPG56.Human molecular genetics · 2026Article
- A Phenotypic Paradigm for Cerebral Palsy Genetics.medRxiv : the preprint server for health sciences · 2026Article
- Advances in Genetic Discoveries in Cerebral Palsy: Implications for Diagnosis, Prognosis, and Counseling.Current neurology and neuroscience reports · 2026Review
- Genetic testing in cerebral palsy with clinical and neuroimaging variables.Developmental medicine and child neurology · 2025Article
- Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing.International journal of molecular sciences · 2025Article
- Genetic Variants Associated with Suspected Neonatal Hypoxic Ischaemic Encephalopathy: A Study in a South African Context.International journal of molecular sciences · 2025Article
- Genetic investigations in cerebral palsy.Developmental medicine and child neurology · 2025Review
- Unravelling genetic etiology of cerebral palsy: findings from a Slovenian pediatric cohort.Frontiers in neurology · 2025Article
- Uncertainties Regarding Cerebral Palsy Diagnosis: Opportunities to Clarify the Consensus Definition.Neurology. Clinical practice · 2024Article
- Genetics of Cerebral Palsy: Diagnosis, Differential Diagnosis, and Beyond.Annals of rehabilitation medicine · 2024Article
- Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 syndrome.EMBO molecular medicine · 2024Article
- Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy.Indian journal of pediatrics · 2024Article
- Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.Nature medicine · 2024Article
- Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.Nature genetics · 2024Article
- Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology.Nature reviews. Neurology · 2023Review
- Integrative Multi-Omics Research in Cerebral Palsy: Current Progress and Future Prospects.Neurochemical research · 2023Review
- Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes.Molecular genetics and metabolism · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveCerebral palsy is a common, heterogeneous neurodevelopmental disorder that causes movement and postural disabilities. Recent studies have suggested genetic diseases can be misdiagnosed as cerebral palsy. We hypothesized that two simple criteria, that is, full-term births and nonspecific brain MRI findings, are keys to extracting masqueraders among cerebral palsy cases due to the following: (1) preterm infants are susceptible to multiple environmental factors and therefore demonstrate an increased risk of cerebral palsy and (2) brain MRI assessment is essential for excluding environmental causes and other particular disorders.
methodsA total of 107 patients-all full-term births-without specific findings on brain MRI were identified among 897 patients diagnosed with cerebral palsy who were followed at our center. DNA samples were available for 17 of the 107 cases for trio whole-exome sequencing and array comparative genomic hybridization. We prioritized variants in genes known to be relevant in neurodevelopmental diseases and evaluated their pathogenicity according to the American College of Medical Genetics guidelines.
resultsPathogenic/likely pathogenic candidate variants were identified in 9 of 17 cases (52.9%) within eight genes:
interpretationThe high rate of detecting causative genetic variants (52.9%) suggests that patients diagnosed with cerebral palsy in full-term births without specific MRI findings may include genetic diseases masquerading as cerebral palsy.
Identifiers
What OpenQuestion holds
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.