Hallervorden-Spatz syndrome

The historic and current status of Hallervorden-Spatz syndrome diagnosis, classification, and therapies are discussed. A number of symptomatic therapies are available and should be used optimally for each patient. Although one gene locus has been identified, many patients do not manifest linkage to the NBIA1 locus (neurodegeneration with brain iron accumulation). Further investigation is necessary. The lack of understanding of the basic mechanisms that underlie the syndrome have hindered the development of more meaningful classification and definitive therapies. The recent report of a defect in a novel pantothenate kinase gene (PANK2) in Hallervorden-Spatz syndrome will undoubtedly lead the way to future advances in the diagnosis and management of the syndrome. The clarification of the role of oxidative distress in the pathophysiology of the syndrome will fill a large void in the understanding of the condition. (C) 2001 by Elsevier Science Inc. All rights reserved.