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

NJ Cairns, M Neumann, EH Bigio, IE Holm… - The American journal of …, 2007 - Elsevier
NJ Cairns, M Neumann, EH Bigio, IE Holm, D Troost, KJ Hatanpaa, C Foong, CL White III
The American journal of pathology, 2007Elsevier
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 …
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.
Elsevier