FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration

Claudia Cantoni, Chiara Fenoglio, Francesca Cortini, Eliana Venturelli, Chiara Villa, Francesca Clerici, Alessandra Marcone, Luisa Benussi, Roberta Ghidoni, Salvatore Gallone, Diego Scalabrini, Massimo Franceschi, Stefano Cappa, Giuliano Binetti, Claudio Mariani, Innocenzo Rainero, Maria Teresa Giordana, Nereo Bresolin, Elio Scarpini, Daniela Galimberti

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3 Scopus citations


Two hundred and fifty one Italian patients with sporadic frontotemporal lobar degeneration (FTLD) and 259 age-matched controls were tested for association with the tagging single nucleotide polymorphisms (SNPs) rs741810 and rs1052352 in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS). Only patients negative for GRN mutations were included. Considering each SNP alone, no differences in either allelic or genotypic frequencies between patients and controls were found (P > 0.05), even stratifying according to gender or the presence of concomitant motor neuron disease. Haplotype analysis failed to detect haplotypes associated with FTLD. According to these results, FUS/TLS is not a susceptibility factor for the development of sporadic FTLD.

Original languageEnglish
Pages (from-to)1317-1322
Number of pages6
JournalJournal of Alzheimer's Disease
Issue number4
StatePublished - 2010


  • Frontotemporal lobar degeneration (FTLD)
  • Fused in sarcoma/translated in liposarcoma (FUS/TLS)
  • Polymorphism
  • Risk factor
  • Variability


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