J Korean Neurol Assoc.
2008 Aug;26(3):243-246.
Three Patients With Classic and Atypical Neurodegeneration With Brain Iron Accumulation
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- 1Department 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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