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Article

Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.

Bratislavske lekarske listy - 1 Jan 2022

Radvanska Eva, Pos Zuzana, Zatkova Andrea, Hyblova Michaela, Bauer Frantisek, Szemes Tomas, Kadasi Ludevit, Radvanszky Jan

Abstract excerpt

BACKGROUND: Pontocerebellar hypoplasia type 1 (PCH1) is characterized by a central and peripheral motor dysfunction associated with anterior horn cell degeneration, similar to spinal muscular atrophy (SMA). OBJECTIVES: We analysed three probands (later discovered to be siblings) suspected to have severe SMA, however, not confirmed by genetic test. METHODS: Clinical-exome analysis (Illumina) was performed to...

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Identifiers

PMID: 35852507
DOI: 10.4149/BLL_2022_090

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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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