TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions.

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Research Abstract Details 

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TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Abstract Text:

Nigel J Cairns,Manuela Neumann,Eileen H Bigio,Ida E Holm,Dirk Troost,Kimmo J Hatanpaa,Chan Foong,Charles L White,Julie A Schneider,Hans A Kretzschmar,Deborah Carter,Lisa Taylor-Reinwald,Katherine Paulsmeyer,Jeffrey Strider,Michael Gitcho,Alison M Goate,John C Morris,Manjari Mishra,Linda K Kwong,Anna Stieber,Yan Xu,Mark S Forman,John Q Trojanowski,Virginia M-Y Lee,Ian R A Mackenzie,

TAR DNA-binding protein 43 (TDP-43) is a major pathological protein of sporadic and familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions (FTLD-U) with or without motor neuron disease (MND). Thus, TDP-43 defines a novel class of neurodegenerative diseases called TDP-43 proteinopathies. We performed ubiquitin and TDP-43 immunohistochemistry on 193 cases of familial and sporadic FTLD with or without MND. On selected cases, immunoelectron microscopy and biochemistry were performed. Clinically defined frontotemporal dementias (FTDs) included four groups: 1) familial FTD with mutations in progranulin (n = 36), valosin-containing protein (n = 5), charged multivesicular body protein 2B (n = 4), and linked to chromosome 9p (n = 7); 2) familial cases of FTD with unknown gene association (n = 29); 3) sporadic FTD (n = 72); and 4) familial and sporadic FTD with MND (n = 40). Our studies confirm that the spectrum of TDP-43 proteinopathies includes most cases of sporadic and familial FTLD-U with and without MND and expand this disease spectrum to include reported families with FTD linked to chromosome 9p but not FTD with charged multivesicular body protein 2B mutations. Thus, despite significant clinical, genetic, and neuropathological heterogeneity of FTLD-U, TDP-43 is a common pathological substrate underlying a large subset of these disorders, thereby implicating TDP-43 in novel and unifying mechanisms of FTLD pathogenesis.

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Publishing Authors By Initials

NJ Cairns,M Neumann,EH Bigio,IE Holm,D Troost,KJ Hatanpaa,C Foong,CL White,JA Schneider,HA Kretzschmar,D Carter,L Taylor-Reinwald,K Paulsmeyer,J Strider,M Gitcho,AM Goate,JC Morris,M Mishra,LK Kwong,A Stieber,Y Xu,MS Forman,JQ Trojanowski,VM Lee,IR Mackenzie,

For similar proteins: ubiquitins: ubiquitin research abstracts see: proteins: ubiquitins: ubiquitin research

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TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: The American journal of pathology

VOLUME: 171

Page Numbers: 227-40

Journal Abbreviation: Am. J. Pathol.

ISSN: 0002-9440

DAY: 3

MONTH: Jul

YEAR: 2007

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 370502

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Keywords Mesh Terms:

KEYWORDS: Ubiquitin

MESH TERMS: metabolism

Chemical & Substance for Abstract: TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Information

Substance Name: protein TDP-43

Registry Number: 0

Grant and Affiliation Information for TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions.

AFFILIATION: MRCPath, Department of Pathology and Immunology, Washington University School of Medicine, Campus Box 8118, St Louis, MO 63110, USA. cairns@wustl.edu

Country: United States

AGENCY: United States NIA

GRANT: AG17586

ACRONYM: AG

MEDLINETA: Am J Pathol

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