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KMID : 0359720080260030243
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Journal of the Korean Neurological Association
2008 Volume.26 No. 3 p.243 ~ p.246
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Three Patients With Classic and Atypical Neurodegeneration With Brain Iron Accumulation
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Lee Seung-Yeob
Lee Myung-Sik
Lyoo Chul-Hyoung
Seo Kwon-Duk
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Abstract
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Neurodegeneration with brain iron accumulation (NBIA) is a disorder characterized by various mixtures of extrapyramidal, pyramidal or psychiatric abnormalities associated with iron accumulation in the basal ganglia. The mutations in the pantothenate kinase gene (PANK2) were found in approximately two thirds of the patients with NBIA. We report three patients wtih NBIA, and two of them showed mutations in the PANK2 gene.
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KEYWORD
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Neurodegeneration, Iron, Pantothenate kinase, Genetics
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