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- Title
Absence of TARDBP Gene Mutations in an Italian Series of Patients with Frontotemporal Lobar Degeneration.
- Authors
Gallone, Salvatore; Giordana, Maria Teresa; Scarpini, Elio; Rainero, Innocenzo; Rubino, Elisa; Fenoglio, Pierpaola; Galimberti, Daniela; Grifoni, Silvia; Venturelli, Eliana; Acutis, Pier Luigi; Peletto, Silvia; Maniaci, Maria Grazia; Ferrero, Patrizia; Zotta, Michela; Pinessi, Lorenzo
- Abstract
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. Copyright © 2009 S. Karger AG, Basel
- Subjects
DNA-binding proteins; GENES; GENETIC mutation; DEMENTIA; PERSONALITY change; PATHOLOGY
- Publication
Dementia & Geriatric Cognitive Disorders, 2009, Vol 28, Issue 3, p239
- ISSN
1420-8008
- Publication type
Article
- DOI
10.1159/000241876