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Article

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.

Neurogenetics - 1 Feb 2013

Poulton Cathryn, Oegema Renske, Heijsman Daphne, Hoogeboom Jeannette, Schot Rachel, Stroink Hans, Willemsen Michèl A, Verheijen Frans W, van de Spek Peter, Kremer Andreas, Mancini Grazia M S

Abstract excerpt

We present a neurodegenerative disorder starting in early childhood of two brothers consisting of severe progressive polyneuropathy, severe progressive cerebellar atrophy, microcephaly, mild epilepsy, and intellectual disability. The cause of this rare syndrome was found to be a homozygous mutation (c.1250_1266dup, resulting in a frameshift p.Thr424GlyfsX48) in PNKP, identified by applying homozygosity mapping...

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Source

Identifiers

PMID: 23224214
DOI: 10.1007/s10048-012-0351-8

Genes

PNKP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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