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Article

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

American journal of human genetics - 5 Mar 2015

Bras Jose, Alonso Isabel, Barbot Clara, Costa Maria Manuela, Darwent Lee, Orme Tatiana, Sequeiros Jorge, Hardy John, Coutinho Paula, Guerreiro Rita

Abstract excerpt

Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (AOA). The integration of data from these...

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Source

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Identifiers

PMID: 25728773
DOI: 10.1016/j.ajhg.2015.01.005
PMCID: PMC4375449

Genes

PNKP

Variants

Provenance

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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Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.PMID 25728773Read ↗

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PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.Semantic proximity Read ↗

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The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.Semantic proximity Read ↗

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