Pantothenate kinase–associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation

KY Chan, CW Lam, LP Lee, SF Tong, YP Yuen
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Kowloon, Hong Kong

Pantothenate kinase–associated neurodegeneration (formerly Hallervorden-Spatz syndrome), the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal dysfunction resulting from mutations in the PANK2 (pantothenate kinase 2) gene. Using DNA mutation analysis, the authors identified a novel missense mutation (P354L) in exon 4 of the PANK2 gene in an adolescent with classic pantothenate kinase–associated neurodegeneration. DNA-based diagnosis of pantothenate kinase–associated neurodegeneration plays a key role in determination, and can make the diagnosis more simply, directly, and economically because it obviates the need for unnecessary biochemical tests. Once pantothenate kinase–associated neurodegeneration–like symptoms are identified, mutation analysis and target screening for the family of the proband can provide efficient and accurate evidence of pantothenate kinase–associated neurodegeneration inheritance.

Hong Kong Med J 2008;14:70-3

Key words: Hallervorden-Spatz syndrome; Iron/ metabolism; Mutation, missense; Neurodegenerative diseases; Phosphotransferases (alcohol group acceptor)/genetics