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Article

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

Cerebellum (London, England) - 1 Feb 2017

Tzoulis C, Sztromwasser Paweł, Johansson Stefan, Gjerde Ivar Otto, Knappskog Per, Bindoff L A

Abstract excerpt

We identified PNKP mutations in a Norwegian woman with AOA. This patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and severe truncal and appendicular ataxia. In addition, she had hypoalbuminemia and massive lower limb edema which showed some improvement with treatment. Exome sequencing identified two heterozygous...

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Source

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Identifiers

PMID: 27165045
DOI: 10.1007/s12311-016-0784-y
PMCID: PMC5243888

Genes

PNKP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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