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KMID : 1197720160090010020
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대한파킨슨병 및 이상운동질환 학회지
2016 Volume.9 No. 1 p.20 ~ p.27
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Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans
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Lee Jae-Hyeok
Nam Sang-Ook
Lee Jee-Young
Lyoo Chul-Hyoung
Park Mee-Young
Sohn Young-Ho
Park Jong-Kyu
Ryu Ho-Sung
Park Hye-Young
Kim Young-Eun
Hong Jin-Yong
Sung Young-Hee
Lee Seung-Hwan
Lee Myung-Jun
Kim Tae-Hyoung
Chung Sun-Ju
Koh Seong-Beom
Lee Phil-Hyu
Cho Jin-Whan
Kim Yun-Joong
Jeon Beom-Seok
Lee Myung-Sik
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Abstract
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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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KEYWORD
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Iron, Neurodegenerative diseases, Pantothenate kinase-associated neurodegeneration, Phenotype, Allele frequency
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