Genetic background predicts poor prognosis in frontotemporal lobar degeneration

B. Borroni, M. Grassi, S. Archetti, A. Papetti, R. Del Bo, C. Bonvicini, G. P. Comi, M. Gennarelli, G. Bellelli, M. Di Luca, A. Padovani

Research output: Contribution to journalArticlepeer-review


Background: Ruling out predictors of survival in frontotemporal lobar degeneration (FTLD) is a clinical challenge for defining disease outcomes and monitoring therapeutic interventions. Little is known about determinants of survival in FTLD. Objective: The aim of the present study was to identify whether genetic determinants are key, not only as risk factors but as predictors of survival in FTLD. Methods: Ninety-seven FTLD patients were considered in the present study. A clinical evaluation and a standardized assessment were carried out. Each patient underwent blood sampling for genetic testing, and mutations within the progranulin (PGRN) gene, microtubule-associated protein tau (MAPT) haplotype, apolipoprotein E (APOE) genotype and 4 vascular endothelial growth factor (VEGF) polymorphisms were evaluated. Discrete-time survival models were applied. Results: Monogenic FTLD due to PGRN mutations [odds ratio (OR) = 3.62, 95% confidence interval (CI) = 1.12-11.7; p = 0.032], and MAPT *H2 haplotype (OR = 3.23, 95% CI = 1.08-9.69; p = 0.036) were associated with an increased hazard risk of poor outcome. Conversely, APOE genotype, and VEGF polymorphisms were not associated with survival risk in the FTLD sample. Conclusions: Genetic background is not only crucial in disease pathogenesis, but it also modulates disease course. Genetic factors influencing prognosis should be taken into account to include homogeneous groups in future clinical trials and to monitor efficacy of future interventions.

Original languageEnglish
Pages (from-to)289-295
Number of pages7
JournalNeurodegenerative Diseases
Issue number5
Publication statusPublished - Jun 2011


  • APOE
  • Frontotemporal dementia
  • Frontotemporal lobar degeneration
  • MAPT haplotype
  • Progranulin
  • VEGF polymorphisms

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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