title: C9orf72 hexanucleotide repeat expansion analysis in Chinese spastic paraplegia patients.
abstract: BACKGROUND
  Recently, a hexanucleotide repeat expansion in the C9orf72 gene has been identified to cause frontotemporal dementia, amyotrophic lateral sclerosis families and many other neurodegenerative diseases. Owing to the overlapping phenotypes among HSP, frontotemporal dementia and amyotrophic lateral sclerosis we hypothesized that C9orf72 expansions might be a genetic risk factor or modifier of HSP.
  
  
  OBJECTIVE
  The aim of this study was to find out whether C9orf72 expansions also confer risk to spastic paraplegia (SPG).
  
  
  METHODS
  We recruited 112 genetically unidentified SPG patients, 68 SPG4 patients and 313 controls in mainland China to determine if hexanucleotide repeat of C9orf72 plays a role in spastic paraplegia.
  
  
  RESULTS
  No large expansion was detected in all subjects. C9orf72 repeat expansions were not associated with onset of HSP.
  
  
  CONCLUSIONS
  Our results support the notion that repeat expansions in C9orf72 may not be associated with HSP in China.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, PR China; Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha 410000, PR China.
authors.forename: Yingying
authors.initials: Y
authors.lastname: Luo
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, PR China.
authors.forename: Bin
authors.initials: B
authors.lastname: Jiao
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha 410008, PR China.
authors.forename: Junling
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha 410008, PR China.
authors.forename: Juan
authors.initials: J
authors.lastname: Du
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha 410008, PR China; State Key Laboratory of Medical Genetics, Central South University, Changsha 410008, PR China.
authors.forename: Xinxiang
authors.initials: X
authors.lastname: Yan
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha 410008, PR China.
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha 410008, PR China; State Key Laboratory of Medical Genetics, Central South University, Changsha 410008, PR China.
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha 410008, PR China; State Key Laboratory of Medical Genetics, Central South University, Changsha 410008, PR China. Electronic address: shenlu2505@126.com.
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People; D000073885:C9orf72 Protein; D002648:Child; D002675:Child, Preschool; D002681:China; D042622:DNA Repeat Expansion; D006801:Humans; D008875:Middle Aged; D010264:Paraplegia / Q000175:diagnosis / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012307:Risk Factors; D055815:Young Adult
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: Amyotrophic lateral sclerosis; C9orf72; Hereditary spastic paraplegias; Modifier gene; SPG4; Spastic paraplegia