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J Korean Neurol Assoc. 2008 Aug;26(3):243-246. Korean. Case Report.
Lee SY , Lyoo CH , Seo KD , Lee MS .
Department of Neurology, Yongdong Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. mslee@yuhs.ac
Abstract

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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