title: Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation.
abstract: OBJECTIVE
  The purpose of this study was to evaluate the mutation status of PANK2 among Korean patients with pantothenate kinase-associated neurodegeneration (PKAN) and to document the outcome of pallidal deep brain stimulation (DBS).
  
  
  METHODS
  Direct sequencing and deletion/duplication analysis of PANK2 were conducted in 12 patients (11 unrelated) with PKAN, diagnosed on the basis of extrapyramidal dysfunction and the 'eye-of-the-tiger sign' on brain magnetic resonance imaging (MRI). Pallidal DBS was conducted in four patients, and the outcomes were measured using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS).
  
  
  RESULTS
  A PANK2 mutation was identified in both alleles in all patients. The most prevalent mutation was c.1319G>C (p.R440P) in 8/22 mutated alleles (36%). An intragenic deletion ranging from exons 2 to 4 was found in one allele (1/22, 4.5%) using deletion/duplication analysis. The outcome of pallidal DBS was favorable in two patients with atypical PKAN and moderate severity of dystonia. However, two patients with typical PKAN and relatively severe symptoms showed variable responses.
  
  
  CONCLUSIONS
  The c.1319G>C (p.R440P) mutation appears to be a founder genotype among Korean patients with PKAN. Furthermore, this study provides additional data for the recent international effort to evaluate the efficacy of pallidal DBS in the treatment of patients with PKAN.
authors: Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea. chaeped1@snu.ac.kr
authors: B C
authors: BC
authors: Lim
authors: C-S
authors: CS
authors: Ki
authors: A
authors: A
authors: Cho
authors: H
authors: H
authors: Hwang
authors: K J
authors: KJ
authors: Kim
authors: Y S
authors: YS
authors: Hwang
authors: Y E
authors: YE
authors: Kim
authors: J Y
authors: JY
authors: Yun
authors: B S
authors: BS
authors: Jeon
authors: Y H
authors: YH
authors: Lim
authors: S H
authors: SH
authors: Paek
authors: J H
authors: JH
authors: Chae
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001120:Arginine / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D046690:Deep Brain Stimulation / Q000379:methods*; D004185:Disability Evaluation; D005260:Female; D005917:Globus Pallidus / Q000502:physiology; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics* / Q000628:therapy*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D011392:Proline / Q000235:genetics*; D056910:Republic of Korea; D012720:Severity of Illness Index; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D001120:Arginine; D011392:Proline; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase