title: [Clinical characteristics and spastin gene mutation analysis on an autosomal dominant kindred with hereditary spastic paraplegia].
abstract: OBJECTIVE
  To investigate the clinical characteristics and analyze spastin gene mutation on a kindred with hereditary spastic paraplegia (HSP).
  
  
  METHODS
  All family members were studied through clinical examinations. The proband and another two patients in this kindred were subjected to electromyography (EMG) examinations. The proband was subjected to thoracic MRI examination too. Mutation analysis of spastin gene was screened by polymerase chain reaction combined with DNA sequencing in the proband and his father.
  
  
  RESULTS
  All patients in the kindred manifested as classical HSP. Thoracic MRI revealed atrophies of the spinal cord in the proband. No abnormal spastin gene mutation was detected in these two patients.
  
  
  CONCLUSIONS
  This kindred has typical clinical manifestations of HSP. The pathogenesis has no association with mutation of the exons of spastin gene.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041 PR China.
authors.forename: Ling
authors.initials: L
authors.lastname: Liu
authors.forename: Yun-qiang
authors.initials: YQ
authors.lastname: Liu
authors.forename: Yan-ming
authors.initials: YM
authors.lastname: Xu
authors.forename: Rui
authors.initials: R
authors.lastname: Xue
authors.forename: Yu-feng
authors.initials: YF
authors.lastname: Tang
authors.forename: Li-li
authors.initials: LL
authors.lastname: Zhao
authors.forename: Yong-hong
authors.initials: YH
authors.lastname: Liu
authors.forename: Dong
authors.initials: D
authors.lastname: Zhou
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004576:Electromyography; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology*; D000074181:Spastin; D055815:Young Adult
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human