Chan K Y, Lam C W, Lee L P, Tong S F, Yuen Y P
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Kowloon, Hong Kong.
Hong Kong Med J. 2008 Feb;14(1):70-3.
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.
泛酸激酶相关神经变性（以前称为哈勒沃登 - 施帕茨综合征）是脑铁沉积所致神经变性最常见的形式，是一种罕见的退行性脑病，其特征主要为锥体外系功能障碍，由PANK2（泛酸激酶2）基因突变引起。通过DNA突变分析，作者在一名患有典型泛酸激酶相关神经变性的青少年中，于PANK2基因第4外显子中鉴定出一种新的错义突变（P354L）。基于DNA的泛酸激酶相关神经变性诊断在确诊中起关键作用，并且由于无需进行不必要的生化检测，因此可以使诊断更简单、直接且经济。一旦识别出类似泛酸激酶相关神经变性的症状，对先证者家族进行突变分析和靶向筛查可为泛酸激酶相关神经变性遗传提供高效且准确的证据。
