title: Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review.
abstract: OBJECTIVE
  Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease caused by pantothenate kinase 2 (PANK2, OMIM 606157) mutations. This study is aimed to investigate clinical presentations, pathologies, and genetics in patients with PKAN.
  
  
  METHODS
  Two patients with PKAN were reported. We reviewed the literature to include additional 19 patients with PKAN in Eastern Asia. These patients were divided into classic and atypical groups by the age of onset. We compared the data on PKAN patients of Asian and Caucasian populations.
  
  
  RESULTS
  We found iron deposits in the globus pallidus in our Patient 1 and a heterozygous truncating mutation (c.1408insT) in Patient 2. Literature review shows that generalized dystonia and bulbar signs are more common in classic PKAN patients, whereas segmental dystonia and tremors are more specific to atypical ones. Asian patients have less complex presentations--lower prevalence of pyramidal signs, mental impairment, and parkinsonism--than Caucasians. D378G in exon 3 is the most frequent mutation (28%) in Asians.
  
  
  CONCLUSIONS
  Our study demonstrates that the distribution of dystonia is the major distinction between subgroups of PKAN. Caucasian patients have more complex presentations than Asians. Exon 3 and 4 are hot spots for screening PANK2 mutations in Asian patients.
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan 333, Taiwan.
authors.forename: Chih-Hong
authors.initials: CH
authors.lastname: Lee
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan 333, Taiwan ; Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan 333, Taiwan.
authors.forename: Chin-Song
authors.initials: CS
authors.lastname: Lu
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan 333, Taiwan ; Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan 333, Taiwan.
authors.forename: Wen-Li
authors.initials: WL
authors.lastname: Chuang
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan 333, Taiwan ; Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan 333, Taiwan.
authors.forename: Tu-Hsueh
authors.initials: TH
authors.lastname: Yeh
authors.affiliation: Department of Pathology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan 333, Taiwan.
authors.forename: Shih-Ming
authors.initials: SM
authors.lastname: Jung
authors.affiliation: Department of Neurology, Saint Paul's Hospital, Taoyuan 333, Taiwan.
authors.forename: Chia-Ling
authors.initials: CL
authors.lastname: Huang
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan 333, Taiwan ; Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan 333, Taiwan.
authors.forename: Szu-Chia
authors.initials: SC
authors.lastname: Lai
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001344:Autopsy; D001921:Brain / Q000378:metabolism / Q000473:pathology; D004576:Electromyography; D017809:Fatal Outcome; D056726:Genetic Association Studies; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007501:Iron / Q000378:metabolism; D008297:Male; D009154:Mutation; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics / Q000378:metabolism; D044465:White People / Q000235:genetics*; D055815:Young Adult
chemical_list: D007501:Iron; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase