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Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).

作者信息

Hayflick Susan J

机构信息

Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health Sciences University, L103a, 3181 SW Sam Jackson Park Road, Portland 97201, USA.

出版信息

J Neurol Sci. 2003 Mar 15;207(1-2):106-7. doi: 10.1016/s0022-510x(02)00433-1.

DOI:10.1016/s0022-510x(02)00433-1
PMID:12614941
Abstract
摘要

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Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).泛酸激酶相关神经变性（原称哈勒沃登-施帕茨综合征）。
J Neurol Sci. 2003 Mar 15;207(1-2):106-7. doi: 10.1016/s0022-510x(02)00433-1.
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The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.泛酸激酶相关神经变性的多样表型和基因型。
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Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.复合杂合性PANK2突变证实哈普综合征和苍白球黑质色素变性综合征具有等位基因关系。
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[123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene.两名患有泛酸激酶2基因纯合突变的Hallervorden-Spatz病患者的[123I]FP-CIT单光子发射计算机断层扫描结果。
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Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.哈勒沃登-施帕茨综合征的遗传学、临床及影像学特征
N Engl J Med. 2003 Jan 2;348(1):33-40. doi: 10.1056/NEJMoa020817.
6
Hallervorden Spatz syndrome (pantothenate kinase associated neurodegeneration) in two Sardinian brother with homozygous mutation in PANK 2 gene.两名患有PANK 2基因纯合突变的撒丁岛兄弟中的哈勒沃登-施帕茨综合征（泛酸激酶相关神经变性）
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Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.两名中国儿童的泛酸激酶相关神经变性：一种新型PANK2基因突变的鉴定
Hong Kong Med J. 2008 Feb;14(1):70-3.
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Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).基因符号：PANK2。疾病：泛酸激酶相关神经变性（PKAN）。
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Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2.在由突变泛酸激酶2的异常加工、稳定性和催化活性导致的脑铁沉积神经退行性变中，神经元线粒体辅酶A合成发生改变。
J Neurosci. 2005 Jan 19;25(3):689-98. doi: 10.1523/JNEUROSCI.4265-04.2005.

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