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Journal of the Korean Neurological Association 2008;26(3): 243-246.
전형적, 비전형적 임상 양상을 보인 Neurodegeneration With Brain Iron Accumulation 환자
이승엽, 류철형 서권덕 이명식
연세대학교 의과대학 영동세브란스병원 신경과학교실
Three Patients With Classic and Atypical Neurodegeneration With Brain Iron Accumulation
Seung-Yeob Lee
Department of Neurology, Yongdong Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
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. KeyWords:Neurodegeneration, Iron, Pantothenate kinase, Genetics