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Article

A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

European journal of medical genetics - 1 Nov 2013

Pérez-González E A, Chacón-Camacho O F, Arteaga-Vázquez J, Zenteno J C, Mutchinick O M

Abstract excerpt

Pantothenate kinase-associated neurodegeneration (PKAN) disease is an autosomal recessive neurodegenerative disorder with iron storage in the brain due to PANK2 gene mutations. Brain magnetic resonance imaging (MRI) shows the typical "eye-of-the-tiger" sign. The aim of the present study was to describe clinical, MRI and molecular findings in a 26-year-old male with atypical PKAN disease in whom, brain MRI scans...

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Source

Identifiers

PMID: 24075960
DOI: 10.1016/j.ejmg.2013.08.007

Genes

PANK2

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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