Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features

15 Jul 2010

Abstract excerpt

Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these (PCH1, PCH2, PCH4, and PCH6) is known. PCH6 is associated with cerebral atrophy and multiple but variable respiratory chain defects in muscle and has been reported in one consanguineous Sephardic Jewish family. It is caused by mutations in the RARS2 gene which encodes mitochondrial...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Advanced Neuroimaging Techniques and Applications
Share to Fetal and Pediatric Neurological Disorders
Share to Neonatal and fetal brain pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 20635367
DOI: 10.1002/ajmg.a.33531

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pontocerebellar hypoplasia type 6: A British case with PEHO‐like featuresPMID 20635367Read ↗

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.Semantic proximity Read ↗

Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variationsSemantic proximity Read ↗

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.Semantic proximity Read ↗

Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.Semantic proximity Read ↗

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.Semantic proximity Read ↗

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.Semantic proximity Read ↗

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.Semantic proximity Read ↗

Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.Semantic proximity Read ↗

RARS2 mutations in a sibship with infantile spasms.Semantic proximity Read ↗

Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.Semantic proximity Read ↗

Pontocerebellar hypoplasia.Semantic proximity Read ↗

Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.