ReviewCerebellum (London, England)2021
Diagnostic Approach to Cerebellar Hypoplasia.
Review in Cerebellum (London, England), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
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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
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.Neurogenetics · 2025Pooled it
- Znhit3 regulates p53/p21 signaling and governs cerebellar granule cell development.Cell death and differentiation · 2026Article
- Posterior Fossa Malformations in a Cohort of 116 Fetuses: A Retrospective Analysis of Imaging Characteristics, Postnatal Imaging Concordance, Pregnancy Outcomes and Yield of Genetic Testing.Cerebellum (London, England) · 2026Article
- Functional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9.Cerebellum (London, England) · 2026Article
- Seizures and Apneas as clinical manifestations of brain lesions in term infants: a single center experience.Italian journal of pediatrics · 2026Article
- Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.American journal of human genetics · 2026Article
- Age-Specific Biometric Ratios of the Posterior Fossa in Pediatric Neuroimaging: Establishing Normative Reference Values.Iranian journal of child neurology · 2026Article
- Fetal imaging of posterior fossa malformations.Pediatric radiology · 2025Review
- Neurodevelopmental Outcome in Isolated Vermian Hypoplasia: A Single-Center Retrospective Cohort Study and Literature Review.Cerebellum (London, England) · 2025Review
- Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.CNS neuroscience & therapeutics · 2025Review
- SMPD4-mediated sphingolipid metabolism regulates brain and primary cilia development.Development (Cambridge, England) · 2024Article
- Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.Cerebellum (London, England) · 2024Article
- Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.BMC medical genomics · 2024Article
- Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.BMC medical genomics · 2024Article
- Congenital hiatal hernia with vermis hypoplasia, dysmorphic features and negative genetic study: A case report.SAGE open medical case reports · 2024Article
- FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Comprehensive volumetric phenotyping of the neonatal brain in Down syndrome.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.BMC medical genomics · 2023Article
- Neocortical and cerebellar malformations affect flurothyl-induced seizures in female C57BL/6J mice.Frontiers in neuroscience · 2023Article
- Prenatal Diagnosis and Neurodevelopmental Outcome in Isolated Cerebellar Hypoplasia of Suspected Hemorrhagic Etiology: a Retrospective Cohort Study.Cerebellum (London, England) · 2022Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
Abstract
Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape. CH is associated with a broad heterogeneity in neuroradiologic features, etiologies, clinical characteristics, and neurodevelopmental outcomes, challenging physicians evaluating children with CH. Traditionally, neuroimaging has been a key tool to categorize CH based on the pattern of cerebellar involvement (e.g., hypoplasia of cerebellar vermis only vs. hypoplasia of both the vermis and cerebellar hemispheres) and the presence of associated brainstem and cerebral anomalies. With the advances in genetic technologies of the recent decade, many novel CH genes have been identified, and consequently, a constant updating of the literature and revision of the classification of cerebellar malformations are needed. Here, we review the current literature on CH. We propose a systematic approach to recognize specific neuroimaging patterns associated with CH, based on whether the CH is isolated or associated with posterior cerebrospinal fluid anomalies, specific brainstem or cerebellar malformations, brainstem hypoplasia with or without cortical migration anomalies, or dysplasia. The CH radiologic pattern and clinical assessment will allow the clinician to guide his investigations and genetic testing, give a more precise diagnosis, screen for associated comorbidities, and improve prognostication of associated neurodevelopmental outcomes.
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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 Socratic graph.