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- Title
The CST3 B haplotype is associated with frontotemporal lobar degeneration.
- Authors
Benussi, L.; Ghidoni, R.; Galimberti, D.; Boccardi, M.; Fenoglio, C.; Scarpini, E.; Frisoni, G. B.; Binetti, G.
- Abstract
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.
- Subjects
FRONTOTEMPORAL dementia; GENETIC mutation; PROTEINS; NEUROBEHAVIORAL disorders; GENETIC polymorphisms
- Publication
European Journal of Neurology, 2010, Vol 17, Issue 1, p143
- ISSN
1351-5101
- Publication type
Article
- DOI
10.1111/j.1468-1331.2009.02767.x