Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration

Springer Science and Business Media LLC - Tập 114 - Trang 5-22 - 2007
Nigel J. Cairns1,2,3, Eileen H. Bigio4,5, Ian R. A. Mackenzie6, Manuela Neumann7, Virginia M.-Y. Lee8, Kimmo J. Hatanpaa9, Charles L. White9, Julie A. Schneider10, Lea Tenenholz Grinberg11, Glenda Halliday12, Charles Duyckaerts13, James S. Lowe14, Ida E. Holm15, Markus Tolnay16, Koichi Okamoto17, Hideaki Yokoo18, Shigeo Murayama19, John Woulfe20, David G. Munoz21, Dennis W. Dickson22, Paul G. Ince23, John Q. Trojanowski8,24, David M. A. Mann25
1Department of Neurology, Washington University School of Medicine, St. Louis, USA
2Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, USA
3Alzheimer’s Disease Research Center, Washington University School of Medicine, St Louis, USA
4Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, USA
5Cognitive Neurology and Alzheimer Disease Center, Northwestern University, Feinberg School of Medicine, Chicago, USA
6Department of Pathology and Laboratory Medicine, Vancouver General Hospital, Vancouver, Canada
7Center for Neuropathology and Prion Research, Ludwig-Maximilians University, Munich, Germany
8Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia, USA
9Neuropathology Laboratory, Department of Pathology, University of Texas Southwestern Medical School, Dallas, USA
10Rush Alzheimer’s Disease Center, Rush University Medical School, Chicago, USA
11Department of Pathology and Instituto Israelita de Ensino e Pesquisa Albert Einstein, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo, Brazil
12Prince of Wales Medical Research Institute, Sydney, Australia
13Laboratoire de Neuropathologie Escourolle, Hôpital de La Salpêtrière, Paris, France
14Department of Neuropathology, Queen’s Medical Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK
15Department of Pathology, Aalborg Hospital, Aarhus University Hospital, Aalborg, Denmark
16Department of Neuropathology, Institute of Pathology, University Hospital Basel, Basel, Switzerland
17Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan
18Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan
19Geriatric Neuroscience (Neuropathology), Tokyo Metropolitan institute of Gerontology, Tokyo, Japan
20Department of Pathology, Ottawa Hospital and University of Ottawa, Ottawa, Canada
21Department of Pathology, Saint Michael’s Hospital and University of Toronto, Toronto, Canada
22Neuropathology Laboratory, Mayo Clinic College of Medicine, Jacksonville, USA
23Neuropathology Group, Academic Unit of Pathology, University of Sheffield Medical School, Sheffield, UK
24Institute on Aging, University of Pennsylvania School of Medicine, Philadelphia, USA
25Clinical Neuroscience Research Group, School of Translational Medicine, Greater Manchester Neurosciences Centre, University of Manchester, Salford, UK

Tóm tắt

The aim of this study was to improve the neuropathologic recognition and provide criteria for the pathological diagnosis in the neurodegenerative diseases grouped as frontotemporal lobar degeneration (FTLD); revised criteria are proposed. Recent advances in molecular genetics, biochemistry, and neuropathology of FTLD prompted the Midwest Consortium for Frontotemporal Lobar Degeneration and experts at other centers to review and revise the existing neuropathologic diagnostic criteria for FTLD. The proposed criteria for FTLD are based on existing criteria, which include the tauopathies [FTLD with Pick bodies, corticobasal degeneration, progressive supranuclear palsy, sporadic multiple system tauopathy with dementia, argyrophilic grain disease, neurofibrillary tangle dementia, and FTD with microtubule-associated tau (MAPT) gene mutation, also called FTD with parkinsonism linked to chromosome 17 (FTDP-17)]. The proposed criteria take into account new disease entities and include the novel molecular pathology, TDP-43 proteinopathy, now recognized to be the most frequent histological finding in FTLD. TDP-43 is a major component of the pathologic inclusions of most sporadic and familial cases of FTLD with ubiquitin-positive, tau-negative inclusions (FTLD-U) with or without motor neuron disease (MND). Molecular genetic studies of familial cases of FTLD-U have shown that mutations in the progranulin (PGRN) gene are a major genetic cause of FTLD-U. Mutations in valosin-containing protein (VCP) gene are present in rare familial forms of FTD, and some families with FTD and/or MND have been linked to chromosome 9p, and both are types of FTLD-U. Thus, familial TDP-43 proteinopathy is associated with defects in multiple genes, and molecular genetics is required in these cases to correctly identify the causative gene defect. In addition to genetic heterogeneity amongst the TDP-43 proteinopathies, there is also neuropathologic heterogeneity and there is a close relationship between genotype and FTLD-U subtype. In addition to these recent significant advances in the neuropathology of FTLD-U, novel FTLD entities have been further characterized, including neuronal intermediate filament inclusion disease. The proposed criteria incorporate up-to-date neuropathology of FTLD in the light of recent immunohistochemical, biochemical, and genetic advances. These criteria will be of value to the practicing neuropathologist and provide a foundation for clinical, clinico-pathologic, mechanistic studies and in vivo models of pathogenesis of FTLD.

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