Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies

Journal of Neurology
P M StanfordP R Schofield

Abstract

Tau gene mutations with insoluble Tau neuropathology have been identified in pedigrees with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). Other neurodegenerative diseases, including progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD), are also characterised by insoluble Tau neuropathology. This study sought to determine the nature and frequency of tau gene mutations in an affected proband cohort of patients within this spectrum of neurodegenerative diseases. Sixty-four individuals with clinical features consistent with FTD and other tauopathies were referred over a three year period. There was neuropathological confirmation of disease in 30%. Individuals were screened for mutations in the coding region and flanking intronic regions of the tau gene by direct sequencing of PCR products. Four confirmed tau gene mutations were identified representing 6.3 % for the total affected proband cohort. Tau gene mutations were found in three of twelve (25%) of the cases with a family history of dominantly inherited frontotemporal dementia, but in only one of 25 cases without a family history (4 %). Although tauopathies have been considered to result from genetic defects, screening for tau ...Continue Reading

Citations

Mar 22, 2008·Journal of Neurology·Albert LladóUNKNOWN Catalan collaborative Study Group for FTLD
Mar 4, 2008·Neurobiology of Aging·Livia BernardiAmalia C Bruni
Oct 1, 2007·Alzheimer's & Dementia : the Journal of the Alzheimer's Association·Ging-Yuek Robin Hsiung, A Dessa Sadovnick
Nov 28, 2015·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Yasushi IwasakiMari Yoshida
May 12, 2007·Brain Pathology·John van Swieten, Maria Grazia Spillantini
Feb 11, 2015·Cellular and Molecular Life Sciences : CMLS·Sarah N FontaineChad A Dickey
Oct 26, 2016·Brain Research Bulletin·Thomas ArendtMax Holzer
Dec 3, 2016·Proceedings of the National Academy of Sciences of the United States of America·Amanda L WoermanStanley B Prusiner
Jan 2, 2008·American Journal of Alzheimer's Disease and Other Dementias·Jill S GoldmanMike Hutton
Oct 13, 2010·Journal of Geriatric Psychiatry and Neurology·Tricia M SeeBruce L Miller
Feb 24, 2006·Brain : a Journal of Neurology·Caroline VanceChristopher E Shaw
Jan 30, 2018·Journal of Alzheimer's Disease : JAD·Claudia SaracenoSilvia Bolognin
Aug 22, 2018·Molecular Neurobiology·Ali JawaidIsabelle M Mansuy
Jan 31, 2020·Acta Neuropathologica Communications·Tatiana OrmeJose Bras
Dec 18, 2020·Frontiers in Neurology·Maria MasnataFrancesca Cicchetti
Apr 6, 2021·Cell Cycle·Kyra UngerleiderCurtis C Harris
Aug 13, 2021·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Ron BalczonTroy Stevens

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