PMID: 11921059Mar 29, 2002Paper

Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation

Annals of Neurology
Shintaro HayashiHitoshi Takahashi

Abstract

We report a case of frontotemporal dementia and parkinsonism linked to chromosome 17 of 5 years' duration in an 81-year-old man whose brother had died at age 86 years with dementia. In this patient, we found frontal and temporal neuronal loss, glial-predominant tau deposits, progressive supranuclear palsy-like straight tubules, accumulation of 4-repeat-predominant Sarkosyl-insoluble tau, and a novel exon 1 (Arg5His) tau gene mutation. This mutation decreased microtubule-promoting capacity and increased fibrillation of tau in vitro. Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the patient's tau pathology and late-onset dementia.

References

Jun 18, 1998·Annals of Neurology·P PoorkajG D Schellenberg
Jun 24, 1998·Proceedings of the National Academy of Sciences of the United States of America·M G SpillantiniB Ghetti

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Citations

Sep 27, 2002·Annals of Neurology·Parvoneh PoorkajGerard D Schellenberg
Dec 23, 2006·Acta Neuropathologica·Salvatore SpinaCatherine Keohane
Sep 3, 2013·Acta Neuropathologica·Zeshan AhmedGabor G Kovacs
Sep 22, 2009·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Maura GalloAmalia Cecilia Bruni
Apr 25, 2003·Experimental Neurology·Alun HughesStuart Pickering-Brown
Nov 26, 2003·Experimental Neurology·Andrew GroverMichael Hutton
Dec 10, 2002·Trends in Molecular Medicine·Esther M Ingram, Maria G Spillantini
Nov 19, 2009·Biochemistry·Nichole E LapointeLester I Binder
Aug 16, 2006·Neuro-degenerative Diseases·Susanne Froelich-FabreLars Lannfelt
Jun 29, 2007·Neuro-degenerative Diseases·Laura GaspariniMaria Grazia Spillantini
Feb 8, 2011·Neurobiology of Aging·Maria AnfossiAmalia C Bruni
Oct 21, 2004·The Journal of Pathology·Nigel J CairnsJohn Q Trojanowski
May 19, 2007·Experimental Neurology·Stuart M Pickering-Brown
Nov 11, 2006·The American Journal of Geriatric Psychiatry : Official Journal of the American Association for Geriatric Psychiatry·K Ranga Rama Krishnan
Nov 4, 2015·Frontiers in Aging Neuroscience·Giacomina Rossi, Fabrizio Tagliavini
Sep 18, 2008·Journal of Neuroscience Research·Nichole E LaPointeScott T Brady
May 12, 2007·Brain Pathology·John van Swieten, Maria Grazia Spillantini
Sep 17, 2013·Journal of Neurochemistry·Melissa A Bradley-WhitmanMark A Lovell
Oct 14, 2009·Neuropathology and Applied Neurobiology·S M Pickering-Brown
Oct 7, 2004·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Jürgen GötzLuis Pennanen
Aug 16, 2006·Journal of Molecular Biology·Patrick Barré, David Eliezer
Oct 22, 2005·Lancet Neurology·David NearyDavid Mann
Sep 22, 2015·Frontiers in Aging Neuroscience·Alberto BenussiBarbara Borroni
Apr 23, 2015·Acta Neuropathologica·Pawel TacikDennis W Dickson
Apr 9, 2015·Frontiers in Molecular Neuroscience·Francesca FontanaMichela A Denti
Feb 11, 2015·Cellular and Molecular Life Sciences : CMLS·Sarah N FontaineChad A Dickey
Dec 24, 2004·Biochimica Et Biophysica Acta·Ian D'Souza, Gerard D Schellenberg
Dec 24, 2004·Biochimica Et Biophysica Acta·Roland BrandtNeelam Shahani
Dec 24, 2004·Biochimica Et Biophysica Acta·Nicolas SergeantLuc Buée
Dec 24, 2004·Biochimica Et Biophysica Acta·Jeff KuretQi Zhong
Dec 24, 2004·Biochimica Et Biophysica Acta·Michel Goedert, Ross Jakes
Jul 18, 2008·Handbook of Clinical Neurology·Anna Richardson, David Neary
Jul 18, 2008·Handbook of Clinical Neurology·Gil D RabinoviciBruce L Miller
Jul 18, 2008·Handbook of Clinical Neurology·Stuart Pickering-Brown, Michael Hutton
Oct 26, 2016·Brain Research Bulletin·Thomas ArendtMax Holzer
Jan 19, 2017·Brain Pathology·David M A Mann, Julie S Snowden
Aug 23, 2007·American Journal of Alzheimer's Disease and Other Dementias·David G MunozJusto García de Yebenes

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