C9orf72 hexanucleotide repeat expansion analysis in Chinese spastic paraplegia patients

  • Luo Y
  • Jiao B
  • Wang J
 et al. 
  • 13

    Readers

    Mendeley users who have this article in their library.
  • 2

    Citations

    Citations of this article.

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. Objectives 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. Conclusion Our results support the notion that repeat expansions in C9orf72 may not be associated with HSP in China.

Author-supplied keywords

  • Amyotrophic lateral sclerosis
  • C9orf72
  • Modifier gene
  • SPG4 Hereditary spastic paraplegias
  • Spastic paraplegia

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document

Authors

  • Yingying Luo

  • Bin Jiao

  • Junling Wang

  • Juan Du

  • Xinxiang Yan

  • Kun Xia

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free