Acanthocytes in pantothenate kinase associated neurodegeneration

Hallervorden-Spatz syndrome (HSS) and HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) were shown to be due to mutations in the gene for pantothenate kinase 2 (PANK2). It was suggested that this group of disorders should now be referred to as pantothenate kinase associated neurodegeneration (PKAN). PANK2 is a key regulatory enzyme in the biosynthesis of coenzyme A, which in turn is pivotal in phospholipid biosynthesis and membranogenesis. Thus, defective membrane repair may be the molecular basis for acanthocyte formation in PKAN. © 2004 Springer. All Rights Reserved.