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Contributors
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- By Waiel Almoustadi, Brian J. Anderson, David B. Auyong, Michael Avidan, Michael J. Avram, Roland J. Bainton, Jeffrey R. Balser, Juliana Barr, W. Scott Beattie, Manfred Blobner, T. Andrew Bowdle, Walter A. Boyle, Eugene B. Campbell, Laura F. Cavallone, Mario Cibelli, C. Michael Crowder, Ola Dale, M. Frances Davies, Mark Dershwitz, George Despotis, Clifford S. Deutschman, Brian S. Donahue, Marcel E. Durieux, Thomas J. Ebert, Talmage D. Egan, Helge Eilers, E. Wesley Ely, Charles W. Emala, Alex S. Evers, Heidrun Fink, Pierre Foëx, Stuart A. Forman, Helen F. Galley, Josephine M. Garcia-Ferrer, Robert W. Gereau, Tony Gin, David Glick, B. Joseph Guglielmo, Dhanesh K. Gupta, Howard B. Gutstein, Robert G. Hahn, Greg B. Hammer, Brian P. Head, Helen Higham, Laureen Hill, Kirk Hogan, Charles W. Hogue, Christopher G. Hughes, Eric Jacobsohn, Roger A. Johns, Dean R. Jones, Max Kelz, Evan D. Kharasch, Ellen W. King, W. Andrew Kofke, Tom C. Krejcie, Richard M. Langford, H. T. Lee, Isobel Lever, Jerrold H. Levy, J. Lance Lichtor, Larry Lindenbaum, Hung Pin Liu, Geoff Lockwood, Alex Macario, Conan MacDougall, M. B. MacIver, Aman Mahajan, Nándor Marczin, J. A. Jeevendra Martyn, George A. Mashour, Mervyn Maze, Thomas McDowell, Stuart McGrane, Berend Mets, Patrick Meybohm, Charles F. Minto, Jonathan Moss, Mohamed Naguib, Istvan Nagy, Nick Oliver, Paul S. Pagel, Pratik P. Pandharipande, Piyush Patel, Andrew J. Patterson, Robert A. Pearce, Ronald G. Pearl, Misha Perouansky, Kristof Racz, Chinniampalayam Rajamohan, Nilesh Randive, Imre Redai, Stephen Robinson, Richard W. Rosenquist, Carl E. Rosow, Uwe Rudolph, Francis V. Salinas, Robert D. Sanders, Sunita Sastry, Michael Schäfer, Jens Scholz, Thomas W. Schnider, Mark A. Schumacher, John W. Sear, Frédérique S. Servin, Jeffrey H. Silverstein, Tom De Smet, Martin Smith, Joe Henry Steinbach, Markus Steinfath, David F. Stowe, Gary R. Strichartz, Michel M. R. F. Struys, Isao Tsuneyoshi, Robert A. Veselis, Arthur Wallace, Robert P. Walt, David C. Warltier, Nigel R. Webster, Jeanine Wiener-Kronish, Troy Wildes, Paul Wischmeyer, Ling-Gang Wu, Stephen Yang
- Edited by Alex S. Evers, Washington University School of Medicine, St Louis, Mervyn Maze, University of California, San Francisco, Evan D. Kharasch, Washington University School of Medicine, St Louis
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- Book:
- Anesthetic Pharmacology
- Published online:
- 11 April 2011
- Print publication:
- 10 March 2011, pp viii-xiv
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35 - Frontotemporal dementia with parkinsonism linked to Chromosome 17
- from Part VI - Other Dementias
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- By Mark S. Forman, Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine University of Pennsylvania, PA, USA, Virginia M.-Y. Lee, Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine University of Pennsylvania, PA, USA, John Q. Trojanowski, Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine University of Pennsylvania, PA, USA
- M. Flint Beal, Cornell University, New York, Anthony E. Lang, University of Toronto, Albert C. Ludolph, Universität Ulm, Germany
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- Book:
- Neurodegenerative Diseases
- Published online:
- 04 August 2010
- Print publication:
- 02 June 2005, pp 494-511
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Summary
Introduction
A variety of sporadic and familial neurodegenerative disorders, characterized clinically by dementia and/or motor dysfunction, demonstrate intracellular accumulations of filamentous material composed of the microtubule-associated protein (MAP) tau (See chapters 29, ‘Neuropathology of Alzheimer's disease’, 34, ‘Pick's and other frontotemporal dementias’, 44, ‘Progressive supranuclear palsy’, and 45, ‘Corticobasal degeneration’). The term ‘tauopathies’ was coined to refer to this seemingly heterogeneous group of neurodegenerative disorders with filamentous tau deposits as their predominant histopathological feature. The progressive accumulation of filamentous tau inclusions in the absence of other disease-specific neuropathological abnormalities provided circumstantial evidence implicating tau dysfunction in disease onset and/or progression. However, the discovery of pathogenic tau mutations in a heterogeneous group of disorders termed frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) provided unequivocal confirmation of the central role of tau abnormalities in the etiology of neurodegenerative disorders (Foster et al., 1997; Poorkaj et al., 1998; Hutton et al., 1998; Spillantini et al., 1998c). This seminal finding has opened novel areas of investigation into the pathophysiologic mechanisms of tau dysfunction and the relationship of tau abnormalities to brain degeneration.
Familial frontotemporal dementia
In 1892, Arnold Pick described a woman with lobar brain atrophy, who presented clinically with presenile dementia and aphasia (Pick, 1892). Thus, this was the first description of what is now classified clinically as frontotemporal dementia (FTD) (McKhann et al., 2001).
12 - Hereditary tauopathies and idiopathic frontotemporal dementias
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- By Mark S. Forman, Center for Neurodegenerative Disease Research, University of Pennsylvania, Philadelphia, PA, USA, John Q. Trojanowski, Center for Neurodegenerative Disease Research, University of Pennsylvania, Philadelphia, PA, USA, Virginia M.-Y. Lee, Center for Neurodegenerative Disease Research, University of Pennsylvania, Philadelphia, PA, USA
- Edited by Margaret M. Esiri, University of Oxford, Virginia M. -Y. Lee, University of Pennsylvania School of Medicine, John Q. Trojanowski, University of Pennsylvania School of Medicine
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- Book:
- The Neuropathology of Dementia
- Published online:
- 12 October 2009
- Print publication:
- 22 July 2004, pp 257-288
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Summary
List of abbreviations
Aβ, β-amyloid; AD, Alzheimer's disease; ALS, amyotrophic lateral sclerosis; CBD, corticobasal degeneration; CHO, Chinese hamster ovary; CNS, central nervous system; ESE, exon-splicing enhancer; ESS, exon-splicing silencer; FTD, frontotemporal dementia; FTDP-17, frontotemporal dementia with parkinsonism linked to chromosome 17; FTLD, frontotemporal lobar degeneration; IHC, immunohistochemistry; MAP, microtubule-associated protein; MND, motor neuron disease; MT, microtubule; NFT, neurofibrillary tangle; PD, Parkinson's disease; PDC, parkinsonism-dementia complex; PHF, paired helical filament; PiD, Pick's disease; PSG, progressive subcortical gliosis; PSP, progressive supranuclear palsy; SF, straight filament; TG, transgenic; WT, wild-type.
Introduction
In 1892, Arnold Pick described a woman with lobar brain atrophy who presented clinically with presenile dementia and aphasia (Pick, 1892), and thus, the first description of what is now classified clinically as frontotemporal dementia (FTD) (Neary et al., 1998; McKhann et al., 2001). The clinical syndromes of FTD are associated with several neuropathological abnormalities (Lund and Manchester Groups, 1994; McKhann et al., 2001). A subset of these disorders is characterized by the intracellular accumulations of filamentous material composed of the microtubule-associated protein (MAP) tau. The term ‘tauopathies’ was coined to refer to this seemingly heterogeneous group of neurodegenerative disorders that includes Pick's disease (PiD), corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), neurofibrillary tangle dementia, and argyrophilic grain disease (see ‘Sporadic tauopathies’, Chapter 11). In FTD patients, there is a family history of a similar dementing illness in approximately 38 to 50% of patients (Knopman et al., 1990b; Stevens et al., 1998; Chow et al., 1999).