Nature Genetics28, 345 - 349 (2001)
Published online: 23 July 2001; | doi:10.1038/ng572
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
Bing Zhou1, Shawn K. Westaway2, Barbara Levinson1, Monique A. Johnson2, Jane Gitschier1
& Susan J. Hayflick2
1
Howard Hughes Medical Institute and Departments of Medicine and Pediatrics, University of California, Parnassus & Third Avenues, U-426, San Francisco, California 94143, USA.
2
Departments of Molecular and Medical Genetics, Pediatrics and Neurology, 3181 SW Sam Jackson Park Road, Oregon Health and Science University, Portland, Oregon 97201, USA.
Correspondence should be addressed to Susan J. Hayflick hayflick@ohsu.edu
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 course1. Histologic study reveals iron deposits in the basal ganglia2. In this respect, HSS may serve as a model for complex neurodegenerative diseases, such as Parkinson disease3, Alzheimer disease4, Huntington disease5 and human immunodeficiency virus (HIV) encephalopathy6, 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.
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NEWS AND VIEWS Iron on the brain Nature Genetics News and Views (01 Aug 2001)
