The CST3 B haplotype is associated with frontotemporal lobar degeneration

L. Benussi, R. Ghidoni, D. Galimberti, M. Boccardi, C. Fenoglio, E. Scarpini, G. B. Frisoni, G. Binetti

Research output: Contribution to journalArticlepeer-review


Background and purpose: Frontotemporal lobar degeneration (FTLD) is a common cause of early-onset dementia. Given the role of cystatin C in brain neurodegeneration and neuroregeneration, the aim of this study was to determine whether the cystatin C gene (CST3) was genetically associated with FTLD. Methods: Hundred and eighty-six FTLD patients and 457 controls underwent CST3 analysis by PCR and KspI enzyme digestion. Results: In FTLD patients negative for the presence of PGRN mutations, we found an over-representation of the CST3 haplotype B [odds ratio (OR = 1.619, P = 0.002)] and of AB/BB genotypes (OR = 1.704, P = 0.008) in FTLD patients. Conclusions: The present study indicated the CST3 B haplotype as a putative risk factor for FTLD in PGRN mutations negative patients. The reduced level of cystatin C, previously associated with the B haplotype, might represent the molecular factor responsible for the increased risk. Long-term depletion of neurotrophic factors, such as cystatin C and progranulin proteins, seem to be a common theme in FTLD: boosting the expression of such proteins might be a promising therapeutic strategy for FTLD.

Original languageEnglish
Pages (from-to)143-146
Number of pages4
JournalEuropean Journal of Neurology
Issue number1
Publication statusPublished - Jan 2010


  • CST3
  • Cystatin C
  • Frontotemporal lobar degeneration
  • Neurotrophic factors
  • PGRN
  • Progranulin
  • Risk factor
  • Therapeutic strategy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


Dive into the research topics of 'The CST3 B haplotype is associated with frontotemporal lobar degeneration'. Together they form a unique fingerprint.

Cite this