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Article

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Orphanet journal of rare diseases - 12 Jul 2011

Namavar Yasmin, Barth Peter G, Poll-The Bwee Tien, Baas Frank

Abstract excerpt

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...

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Identifiers

PMID: 21749694
DOI: 10.1186/1750-1172-6-50
PMCID: PMC3159098

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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