Three Patients With Classic and Atypical Neurodegeneration With Brain Iron Accumulation.
- Author:
Seung Yeob LEE
1
;
Chul Hyoung LYOO
;
Kwon Duk SEO
;
Myung Sik LEE
Author Information
1. Department of Neurology, Yongdong Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. mslee@yuhs.ac
- Publication Type:Case Report
- Keywords:
Neurodegeneration;
Iron;
Pantothenate kinase;
Genetics
- MeSH:
Basal Ganglia;
Brain;
Humans;
Iron;
Iron Metabolism Disorders;
Neuroaxonal Dystrophies;
Phosphotransferases;
Phosphotransferases (Alcohol Group Acceptor)
- From:Journal of the Korean Neurological Association
2008;26(3):243-246
- CountryRepublic of Korea
- Language:Korean
-
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.
