摘要： 泛酸激酶相关性神经变性疾病是脑组织铁沉积性神经变性（NBIA，曾称为Hallervorden-Spatz 综合征）疾病的主要发病类型之一，系由泛酸激酶2（PANK2）基因突变所导致的常染色体隐性遗传性疾病。PANK2 基因突变可干扰PANK2 蛋白表达水平和催化活性，以及线粒体靶蛋白的成熟与稳定性，引起神经元线粒体脂类代谢异常改变，导致脑组织铁沉积性神经变性疾病。本文对该病分子遗传学机制及其与临床表型和影像学特征相关的研究成果和进展进行概述。

关键词: 泛酸激酶相关性神经退行性疾病, 基因, 综述

Abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is a major form of neurodegeneration with brain iron accumulation or NBIA (formerly called Hallervorden-Spatz syndrome). NBIA is caused by altered neuronal mitochondrial lipid metabolism caused by PANK2 mutations disrupting PANK2 protein levels and catalytic activity and by disrupting maturation and stability of the mitochondrially targeted protein. In this article, we will review advances in inherited and clinical research of PKAN.

Key words: Pantothenate kinase-associated neurodegeneration, Genetics, Review