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Article

Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.

Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2005

Zhang Yu-hu, Tang Bei-sha, Zhao Ai-ling, Xia Kun, Long Zhi-gao, Guo Ji-feng, Westaway Shawn K, Hayflick Susan J

Abstract excerpt

We investigated the presence of mutations in the pantothenate kinase (PANK2) gene in a 27-year-old male Chinese patient with atypical pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Automated DNA sequence analyses revealed compound heterozygous mutat...

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Identifiers

PMID: 15747360
DOI: 10.1002/mds.20408
PMCID: PMC2105744

Genes

PANK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15747360-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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