Hallervorden-Spatz syndrome

Figure 20.4 MRI scans of the brain of a patient with (a) Hallervorden-Spatz syndrome and (b) neuroferritinopathy. (From Crichton and Ward, 2006. Reproduced with permission from John Wiley Sons., Inc.)...

Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, and Hayflick SJ (2001) A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nature Genetics 28, 345-9. 

Haytlick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N. Engl. J. Med. 2003 348 33-40. 

Iron deficiency and iron overload are the major disorders of iron metabolism. There are, in addition, many diseases in which abnormal distribution of iron may play primary or secondary roles. Included are such disorders as hyperfer-ritinemia with cataracts, aceruloplasminemia, GRACILE syndrome, neuroferritinopathy, atransferrinemia, and possibly neurodegenerative disease such as Parkinsonism, Hallervorden-Spatz syndrome, and Alzheimer s disease. These latter disorders will not be discussed further here. 

A rare genetic disease, Hallervorden-Spatz syndrome, has recently been shown to result from deficiency of pantothenate kinase, and is now alternatively known as pantothenate kinase-associated neurodegeneration (PKAN). Dystonia, involuntary movements, and spasticity occur, and although there is no cure, some palliative treatment is possible. 

Swaiman KF (2001) Hallervorden-Spatz syndrome. Pediatric Neurology 25 102-108. 

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