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Article

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

Orphanet journal of rare diseases - 15 Jun 2018

van Dijk Tessa, Baas Frank, Barth Peter G, Poll-The Bwee Tien

Abstract excerpt

BACKGROUND: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentorial structures, motor and cognitive impairments. Based on distinct clinical features and genetic causes, current classification comprises 11 types of PCH. MAIN TEXT:...

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Identifiers

PMID: 29903031
DOI: 10.1186/s13023-018-0826-2
PMCID: PMC6003036

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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