Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.

ABSTRACT:

Objective

Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea.

Methods

We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN).

Results

Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related

SUBMITTER: Lee JH 

PROVIDER: S-EPMC4734989 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature