A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

Bing Zhou, Shawn K. Westaway, Barbara Levinson, Monique A. Johnson, Jane Gitschier, Susan J. Hayflick

Research output: Contribution to journalArticle

545 Scopus citations

Abstract

Hallervorden-Spatz syndrome (HSS) is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Histologic study reveals iron deposits in the basal ganglia. In this respect, HSS may serve as a model for complex neurodegenerative diseases, such as Parkinson disease, Alzheimer disease, Huntington disease and human immunodeficiency virus (HIV) encephalopathy, in which pathologic accumulation of iron in the brain is also observed. Thus, understanding the biochemical defect in HSS may provide key insights into the regulation of iron metabolism and its perturbation in this and other neurodegenerative diseases. Here we show that HSS is caused by a defect in a novel pantothenate kinase gene and propose a mechanism for oxidative stress in the pathophysiology of the disease.

Original languageEnglish (US)
Pages (from-to)345-349
Number of pages5
JournalNature genetics
Volume28
Issue number4
DOIs
StatePublished - Aug 14 2001

ASJC Scopus subject areas

  • Genetics

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