J Mov Disord.  2016 Jan;9(1):20-27. 10.14802/jmd.15058.

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans

Affiliations
  • 1Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea. jhlee.neuro@pusan.ac.kr
  • 2Department of Neurology, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea.
  • 3Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 4Department of Neurology, Seoul National University Hospital, Seoul, Korea.
  • 5Department of Neurology, Hallym University Sacred Heart Hospital, Anyang, Korea.
  • 6Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, Korea.
  • 7Department of Pediatrics, Pusan National University Yangsan Hospital, Yangsan, Korea.
  • 8Department of Neurology, Gachon University Gil Hospital, Incheon, Korea.
  • 9Department of Neurology, Kangwon National University School of Medicine, Chuncheon, Korea.
  • 10Department of Neurology, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul, Korea.
  • 11Department of Neurology, Pusan National University Hospital, Busan, Korea.
  • 12Department of Neurology, Dong-Eui Hospital, Busan, Korea.
  • 13Department of Neurology, Gangnam Severance Hospital, Seoul, Korea.
  • 14Department of Neurology, Korea University College of Medicine, Korea University Guro Hospital, Seoul, Korea.
  • 15Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
  • 16Department of Neurology, Yeungnam University Medical Center, Daegu, Korea.

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 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.

Keyword

Iron; Neurodegenerative diseases; Pantothenate kinase-associated neurodegeneration; Phenotype; Allele frequency
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