title: Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia.
abstract: OBJECTIVE
  Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative diseases. Mutations in the spastin (SPG4) gene are responsible for approximately 40% of autosomal dominant HSP (AD-HSP) and 6.5-18% of sporadic cases.
  
  
  METHODS
  Spastin mutations were screened in 11 AD-HSP families and 11 sporadic cases by direct sequencing and MLPA assay. Novel mutations were detected in 100 healthy controls by PCR-RFLP.
  
  
  RESULTS
  We identified seven different spastin mutations in five probands and one sporadic patient. Two of seven mutations were novel. The c.458delT was a pathogenic mutation, but the effect of c.1724 G>T remained unknown.
  
  
  CONCLUSIONS
  This study allowed us to estimate the frequency of the SPG4 mutations in Chinese at 45% (5/11) in families with AD-HSP and 9% (1/11) in sporadic cases. In addition, our data showed p.T614I was not associated with congenital arachnoid cysts.
authors.affiliation: Department of Neurology and Institute of Neurology, Rui Jin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai  Department of Neurology, Zhoushan Hospital, Zhejiang, China.
authors.forename: Q-Z
authors.initials: QZ
authors.lastname: Fei
authors.forename: W-G
authors.initials: WG
authors.lastname: Tang
authors.forename: T-Y
authors.initials: TY
authors.lastname: Rong
authors.forename: H-D
authors.initials: HD
authors.lastname: Tang
authors.forename: J-R
authors.initials: JR
authors.lastname: Liu
authors.forename: Z-L
authors.initials: ZL
authors.lastname: Guo
authors.forename: Y
authors.initials: Y
authors.lastname: Fu
authors.forename: Q
authors.initials: Q
authors.lastname: Xiao
authors.forename: X-J
authors.initials: XJ
authors.lastname: Wang
authors.forename: S-B
authors.initials: SB
authors.lastname: He
authors.forename: L
authors.initials: L
authors.lastname: Cao
authors.forename: S-D
authors.initials: SD
authors.lastname: Chen
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D060885:Multiplex Polymerase Chain Reaction; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D000074181:Spastin
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human