| 泛酸激酶相关性神经变性疾病遗传学与临床研究进展 |
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| 引用本文： | 李小元,陈先文.泛酸激酶相关性神经变性疾病遗传学与临床研究进展[J].中国现代神经疾病杂志,2012,12(3):367-371. |
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| 作者姓名： | 李小元 陈先文 |
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| 作者单位： | 1. 安徽省天长市人民医院神经内科,239300
2. 安徽医科大学第一附属医院神经内科,合肥,230022 |
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| 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。
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| 关 键 词： | 泛酸激酶相关性神经退行性疾病 基因 综述 |
Advances in inherited and clinical research of pantothenate kinase-associated neurodegeneration |
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| LI Xiao-yuan
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CHEN Xian-wen.Advances in inherited and clinical research of pantothenate kinase-associated neurodegeneration[J].Chinese Journal of Contemporary Neurology and Neurosurgery,2012,12(3):367-371. |
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| Authors: | LI Xiao-yuan CHEN Xian-wen |
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| Institution: | 1 Department of Neurology,the Tianchang People’s Hospital,Tianchang 239300,Anhui,China 2 Department of Neurology,the First Affiliated Hospital of Anhui Medical University,Hefei 230022,Anhui,China |
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| 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. |
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| Keywords: | Pantothenate kinase-associated neurodegeneration Genetics Review |
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