Absence of TARDBP gene mutations in an Italian series of patients with frontotemporal lobar degeneration

Salvatore Gallone, Maria Teresa Giordana, Elio Scarpini, Innocenzo Rainero, Elisa Rubino, Pierpaola Fenoglio, Daniela Galimberti, Silvia Grifoni, Eliana Venturelli, Pier Luigi Acutis, Silvia Peletto, Maria Grazia Maniaci, Patrizia Ferrero, Michela Zotta, Lorenzo Pinessi

Research output: Contribution to journalArticlepeer-review


Background/Aim: Recent studies showed that TAR DNA-binding protein 43 (TDP-43), encoded by the TARDBP gene, is a major pathological protein in both sporadic and familial frontotemporal lobar degeneration (FTLD). The aim of this study was to search for mutations of the TARDBP gene in the disease. Methods: We sequenced the TARDBP gene in 172 unrelated FTLD patients recruited from 2 Italian memory clinics. Results: We identified 3 different variants of the TARDBP gene in 12 FTLD patients. Three patients showed a silent variant, Ala66Ala (c.332T → C) in exon 2. A novel heterozygous mutation was found in intron 4 (c.543 + 51A → G) in 1 patient, which is not located at the splicing site. Finally, a c.208C → T variant in the 3′ untranslated region was detected in 8 probands. None of the aforementioned variants were predicted to affect TDP-43. Hence, pathogenic mutations were not identified in any of the FTLD cases. Conclusion: Our study, in accord with previous studies in different populations, found no evidence for a major genetic role of the TARDBP gene in FTLD.

Original languageEnglish
Pages (from-to)239-243
Number of pages5
JournalDementia and Geriatric Cognitive Disorders
Issue number3
Publication statusPublished - Oct 2009


  • Frontotemporal lobar degeneration
  • Gene mutation
  • Polymorphism
  • TAR DNA-binding protein 43

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Geriatrics and Gerontology
  • Cognitive Neuroscience


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