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Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans

 Jae-Hyeok Lee  ;  Jongkyu Park  ;  Ho-Sung Ryu  ;  Hyeyoung Park  ;  Young Eun Kim  ;  Jin Yong Hong  ;  Sang Ook Nam  ;  Young-Hee Sung  ;  Seung-Hwan Lee  ;  Jee-Young Lee  ;  Myung Jun Lee  ;  Tae-Hyoung Kim  ;  Chul Hyoung Lyoo  ;  Sun Ju Chung  ;  Seong Beom Koh  ;  Phil Hyu Lee  ;  Jin Whan Cho  ;  Mee Young Park  ;  Yun Joong Kim  ;  Young H. Sohn  ;  Beom Seok Jeon  ;  Myung Sik Lee 
 Journal of Movement Disorders, Vol.9(1) : 20-27, 2016 
Journal Title
 Journal of Movement Disorders 
Issue Date
Allele frequency ; Iron ; Neurodegenerative diseases ; Pantothenate kinase-associated neurodegeneration ; Phenotype
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 neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN. CONCLUSIONS: We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Lyoo, Chul Hyoung(류철형) ORCID logo https://orcid.org/0000-0003-2231-672X
Sohn, Young Ho(손영호) ORCID logo https://orcid.org/0000-0001-6533-2610
Lee, Myung Sik(이명식) ORCID logo https://orcid.org/0000-0002-8413-1854
Lee, Phil Hyu(이필휴) ORCID logo https://orcid.org/0000-0001-9931-8462
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