ReviewOrphanet journal of rare diseases2011
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
Review in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
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Who cites it
75 citing papers in PubMed, 174 citations in OpenAlex.
- Brainstem Disconnection Syndrome in a Patient With Respiratory Failure and Failed Weaning From Oxygen: A Case Report.Case reports in radiology · 2026Article
- Exploring Pontocerebellar Hypoplasia Type 1C: A Case Study of the 6 th Family with The EXOSC8 Gene Mutation.Annals of Indian Academy of Neurology · 2025Article
- Exploring the Potential of tsRNA as Biomarkers for Diagnosis and Treatment of Neurogenetic Disorders.Molecular neurobiology · 2025Review
- Pontocerebellar Hypoplasia Type 3 With Two NovelCase reports in pediatrics · 2025Article
- Screening forMolecular syndromology · 2024Article
- Article
- Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.Cerebellum (London, England) · 2024Article
- Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature.Journal of pediatric genetics · 2024Article
- Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.Journal of medical genetics · 2024Article
- Cerebellum Lecture: the Cerebellar Nuclei-Core of the Cerebellum.Cerebellum (London, England) · 2024Review
- A novel homozygous variant inFrontiers in pediatrics · 2024Article
- Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene.Cerebellum (London, England) · 2023Article
- Advanced Optical Microscopy: Unveiling Functional Insights Regarding a NovelInternational journal of molecular sciences · 2023Article
- Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.American journal of medical genetics. Part A · 2023Article
- Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children.Journal of pediatric genetics · 2022Article
- Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.Journal of clinical medicine · 2022Article
- BiallelicCold Spring Harbor molecular case studies · 2022Article
- Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report.BMC neurology · 2022Article
- Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia.Nature communications · 2021Article
- The impact of severe rare chronic neurological disease in childhood on the quality of life of families-a study on MLD and PCH2.Orphanet journal of rare diseases · 2021Article
15 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up to now seven different subtypes have been reported (PCH1-7). The incidence of each subtype is unknown. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Patients have severe cognitive and motor handicaps and seizures are often reported. Treatment is only symptomatic and prognosis is poor, as most patients die during infancy or childhood. The genetic basis of different subtypes has been elucidated, which makes prenatal testing possible in families with mutations. Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5. Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. The tRNA splicing endonuclease, the mitochondrial arginyl- tRNA synthetase and the vaccinia related kinase1 are mutated in the minority of PCH1 cases. These genes are involved in essential processes in protein synthesis in general and tRNA processing in particular. In this review we describe the neuroradiological, neuropathological, clinical and genetic features of the different PCH subtypes and we report on in vitro and in vivo studies on the tRNA splicing endonuclease and mitochondrial arginyl-tRNA synthetase and discuss their relation to pontocerebellar hypoplasia.
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