Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia

Archives of Neurology
Maria-Jesús SobridoDaniel H Geschwind

Abstract

A subset of familial cases (FTDP-17) of frontotemporal dementia (FTD) are caused by mutations in the tau gene. The role of tau gene mutations and haplotypes in sporadic FTD and the functional consequences of tau polymorphisms are unknown. To investigate (1) the frequency of known FTDP-17 mutations in familial and sporadic FTD and compare these results with previous studies; (2) whether the tau H1 haplotype is associated with FTD; and (3) the functional effect of intronic tau sequence variations. Patients with familial and sporadic FTD were screened for mutations in the microtubule-binding region of tau. The frequencies of tau haplotypes and genotypes were compared between patients with FTD and control subjects. We analyzed the splicing effect of novel intronic polymorphisms associated with FTD. The P301L mutation was detected in 11% of familial FTD cases. The H1 haplotype was not overrepresented in patients with FTD, but the P301L mutation appeared on the background of the H2 tau haplotype. We identified 4 novel single nucleotide polymorphisms in intron 9 and a 9-base pair deletion in intron 4A. A C-to-T transition 177 base pairs upstream from exon 10 was significantly increased in patients with FTD compared with controls. Dire...Continue Reading

References

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Citations

Feb 6, 2014·Acta Neuropathologica·Hannah A PlinerBryan J Traynor
Oct 15, 2008·Archives of Neurology·Barbara A J SchafferDaniel H Geschwind
Oct 16, 2008·European Journal of Human Genetics : EJHG·Elisa CanuGiovanni B Frisoni
Jun 29, 2007·Neuro-degenerative Diseases·Laura GaspariniMaria Grazia Spillantini
Apr 2, 2004·Neurobiology of Disease·Susanna Schraen-MaschkeBernard Sablonnière
May 11, 2011·Dementia and Geriatric Cognitive Disorders·Takanori IshizukaAkira Sano
Jul 18, 2015·Neuroscience and Biobehavioral Reviews·Grant L IversonRudy J Castellani
Mar 28, 2007·Neurobiology of Aging·S M LawsM Riemenschneider
Oct 7, 2004·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Jürgen GötzLuis Pennanen
Jan 18, 2006·Neurobiology of Disease·Roberta GhidoniGiuliano Binetti
Jul 15, 2015·Molecular Neurodegeneration·Marie-Laure Caillet-BoudinBruno Lefebvre
Feb 11, 2015·Cellular and Molecular Life Sciences : CMLS·Sarah N FontaineChad A Dickey
Nov 13, 2012·Free Radical Biology & Medicine·Scott AytonAshley I Bush
Sep 15, 2004·Human Mutation·R RademakersC van Broeckhoven
Aug 10, 2019·Brain Pathology·Isidro FerrerJosé Antonio Del Rio
Jul 27, 2005·Biochemical Society Transactions·B MurrayM Farrell
Nov 1, 2006·Current Neurology and Neuroscience Reports·Erik D Roberson
May 26, 2016·BMB Reports·Sun Ah ParkJean-Marc Gallo
Nov 1, 2020·Molecular Therapy : the Journal of the American Society of Gene Therapy·Marshall S GoodwinYona Levites

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