title: [Clinical manifestations and detection of pantothenate kinase 2 gene mutation in a patient with Hallervorden-Spatz syndrome].
abstract: OBJECTIVE
  To investigate the clinical features and detection of pantothenate kinase 2 (PANK2) gene mutation in a Chinese patient with Hallervorden-Spatz syndrome (HSS).
  
  
  METHODS
  The clinical features were analyzed in one HSS patient. PANK2 gene mutations were detected by polymerase chain reaction (PCR) and DNA sequence analysis in this patient, her parents and 50 unrelated healthy persons.
  
  
  RESULTS
  The main symptoms of this patient were involuntary movements, dysarthria and progressive course. MRI scans showed hypointensity with a central region of hyperintensity in medial globus pallidus on T2 and T2-weighted fluid attenuated inversion recovery (FLAIR) images, i.e. "eye-of-the-tiger" sign. Novel compound heterozygous PANK2 gene mutations, G115T and A803G, were found in this patient, leading to substitution of a glutamic acid for a premature stop codon at amino acid 39 (E39X) and an aspartic acid for glycine codon at amino acid 268 (D268G) respectively. The father was a heterozygote for G115T mutation and the mother a heterozygote for A803G mutation.
  
  
  CONCLUSIONS
  PANK2 gene mutations are present in Chinese HSS patients. And A803G mutation of PANK2 gene is probably a hot spot.
authors.affiliation: Neurology Department of Second Affiliated Hospital, Guangzhou Medical College, Guangzhou 510260, China.
authors.forename: Xing-wang
authors.initials: XW
authors.lastname: Song
authors.forename: Yu-liang
authors.initials: YL
authors.lastname: Wang
authors.forename: Yi-wu
authors.initials: YW
authors.lastname: Shi
authors.forename: Wei-yi
authors.initials: WY
authors.lastname: Deng
authors.forename: Sheng-qiang
authors.initials: SQ
authors.lastname: Chen
authors.forename: Han
authors.initials: H
authors.lastname: Lin
authors.forename: Yong-hong
authors.initials: YH
authors.lastname: Yi
authors.forename: Wei-ping
authors.initials: WP
authors.lastname: Liao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase