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Article

Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4.

Journal of neurogenetics - 1 Jan 2000

Schiess Nicoline, Zee David S, Siddiqui Khurram A, Szolics Miklos, El-Hattab Ayman W

Abstract excerpt

The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. We report a novel PNKP mutation in two siblings with progressive ataxia, abnormal saccades, sensorimotor neuropathy and dystonia consistent with the AOA type 4 phenotype. Laboratory...

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Source

Identifiers

PMID: 28552035
DOI: 10.1080/01677063.2017.1322079

Genes

PNKP

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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