Access the full text.
Sign up today, get DeepDyve free for 14 days.
J. Whitwell, Clifford Jr., M. Senjem, J. Parisi, B. Boeve, D. Knopman, D. Dickson, R. Petersen, K. Josephs (2009)
MRI Correlates of Protein Deposition and Disease Severity in Postmortem Frontotemporal Lobar DegenerationNeurodegenerative Diseases, 6
K. Josephs, Z. Ahmed, O. Katsuse, J. Parisi, B. Boeve, D. Knopman, R. Petersen, P. Davies, R. Duara, N. Graff-Radford, R. Uitti, R. Rademakers, J. Adamson, M. Baker, M. Hutton, D. Dickson (2007)
Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions With Progranulin Gene (PGRN) MutationsJournal of Neuropathology and Experimental Neurology, 66
Ellen Kim, Gil Rabinovici, W. Seeley, Cathra Halabi, Huidy Shu, M. Weiner, S. DeArmond, J. Trojanowski, M. Gorno-Tempini, Bruce Miller, Howie Rosen (2007)
Patterns of MRI atrophy in tau positive and ubiquitin positive frontotemporal lobar degenerationJournal of Neurology, Neurosurgery, and Psychiatry, 78
B. Boeve, M. Baker, D. Dickson, J. Parisi, C. Giannini, K. Josephs, M. Hutton, S. Pickering-Brown, R. Rademakers, D. Tang‐Wai, C. Jack, K. Kantarci, M. Shiung, T. Golde, Glenn Smith, Y. Geda, D. Knopman, R. Petersen (2006)
Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study.Brain : a journal of neurology, 129 Pt 11
I. Mackenzie, E. Bigio, P. Ince, F. Geser, M. Neumann, N. Cairns, L. Kwong, M. Forman, J. Ravits, H. Stewart, A. Eisen, L. McClusky, H. Kretzschmar, C. Monoranu, J. Highley, J. Kirby, T. Siddique, P. Shaw, V. Lee, J. Trojanowski (2007)
Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutationsAnnals of Neurology, 61
S. Vucic, M. Kiernan (2009)
Pathophysiology of neurodegeneration in familial amyotrophic lateral sclerosis.Current molecular medicine, 9 3
J. Bose, I-Fan Wang, Li-Chi Hung, W. Tarn, C. Shen (2008)
TDP-43 Overexpression Enhances Exon 7 Inclusion during the Survival of Motor Neuron Pre-mRNA Splicing*Journal of Biological Chemistry, 283
S. Rosso, L. Kaat, T. Baks, M. Joosse, I. Koning, Y. Pijnenburg, D. Jong, D. Dooijes, W. Kamphorst, R. Ravid, M. Niermeijer, F. Verheij, H. Kremer, P. Scheltens, C. Duijn, P. Heutink, J. Swieten (2003)
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.Brain : a journal of neurology, 126 Pt 9
G. Coppola, A. Karydas, R. Rademakers, Qing Wang, M. Baker, M. Hutton, B. Miller, D. Geschwind (2008)
Gene expression study on peripheral blood identifies progranulin mutationsAnnals of Neurology, 64
M. Winton, V. Deerlin, L. Kwong, Wuxing Yuan, E. Wood, Chang-En Yu, G. Schellenberg, R. Rademakers, R. Caselli, A. Karydas, J. Trojanowski, B. Miller, V. Lee (2008)
A90V TDP‐43 variant results in the aberrant localization of TDP‐43 in vitroFEBS Letters, 582
I. Mackenzie, M. Neumann, E. Bigio, N. Cairns, I. Alafuzoff, J. Kril, G. Kovacs, B. Ghetti, G. Halliday, I. Holm, P. Ince, W. Kamphorst, T. Révész, A. Rozemuller, S. Kumar-Singh, H. Akiyama, A. Baborie, S. Spina, D. Dickson, J. Trojanowski, D. Mann (2008)
Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendationsActa Neuropathologica, 117
K. Josephs, R. Petersen, D. Knopman, B. Boeve, J. Whitwell, Joseph Duffy, J. Parisi, D. Dickson (2006)
Trigeminal neuralgia due to pontine infarctionNeurology, 66
S. Mclean (1992)
Is it dementia?Australian family physician, 21 12
Penelope Foulds, E. McAuley, L. Gibbons, Y. Davidson, S. Pickering-Brown, D. Neary, J. Snowden, D. Allsop, D. Mann (2008)
TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer’s disease and frontotemporal lobar degenerationActa Neuropathologica, 116
This paper demonstrates a gain-of-function toxic effect in C-terminal fragments of TDP-43
M. Forman, I. Mackenzie, N. Cairns, Eric Swanson, P. Boyer, D. Drachman, B. Jhaveri, J. Karlawish, A. Pestronk, Thomas Smith, P. Tu, G. Watts, W. Markesbery, Charles Smith, V. Kimonis (2006)
Novel Ubiquitin Neuropathology in Frontotemporal Dementia With Valosin-Containing Protein Gene MutationsJournal of Neuropathology and Experimental Neurology, 65
S. Roeber, I. Mackenzie, H. Kretzschmar, M. Neumann (2008)
TDP-43-negative FTLD-U is a significant new clinico-pathological subtype of FTLDActa Neuropathologica, 116
H. Bian, J. Swieten, S. Leight, L. Massimo, E. Wood, M. Forman, P. Moore, I. Koning, C. Clark, S. Rosso, J. Trojanowski, V. Lee, M. Grossman (2008)
CSF biomarkers in frontotemporal lobar degeneration with known pathologyNeurology, 70
24@BULLET], this paper discusses the TARDBP mutation leading to familial ALS. The authors report that their fi ndings provide new insight into the molecular pathogenesis of ALS
F. Geser, M. Martinez-Lage, John Robinson, K. Uryu, M. Neumann, N. Brandmeir, S. Xie, L. Kwong, L. Elman, L. McCluskey, C. Clark, J. Malunda, B. Miller, E. Zimmerman, J. Qian, V. Deerlin, M. Grossman, V. Lee, J. Trojanowski (2009)
Clinical and pathological continuum of multisystem TDP-43 proteinopathies.Archives of neurology, 66 2
J. Knibb, J. Xuereb, K. Patterson, J. Hodges (2006)
Clinical and pathological characterization of progressive aphasiaAnnals of Neurology, 59
P. Kühnlein, A. Sperfeld, B. Vanmassenhove, V. Deerlin, V. Lee, J. Trojanowski, H. Kretzschmar, A. Ludolph, M. Neumann (2008)
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.Archives of neurology, 65 9
M. Neumann, Deepak Sampathu, L. Kwong, Adam Truax, Matthew Micsenyi, T. Chou, J. Bruce, T. Schuck, M. Grossman, C. Clark, L. McCluskey, B. Miller, E. Masliah, I. Mackenzie, H. Feldman, W. Feiden, H. Kretzschmar, J. Trojanowski, V. Lee (2006)
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral SclerosisScience, 314
M. Baker, I. Mackenzie, S. Pickering-Brown, J. Gass, R. Rademakers, C. Lindholm, J. Snowden, J. Adamson, A. Sadovnick, S. Rollinson, A. Cannon, E. Dwosh, D. Neary, S. Melquist, A. Richardson, Dennis Dickson, Z. Berger, J. Eriksen, Todd Robinson, C. Zehr, C. Dickey, R. Crook, E. McGowan, D. Mann, B. Boeve, H. Feldman, M. Hutton (2006)
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17Nature, 442
A. Yokoseki, A. Shiga, C. Tan, A. Tagawa, H. Kaneko, A. Koyama, H. Eguchi, A. Tsujino, T. Ikeuchi, A. Kakita, K. Okamoto, M. Nishizawa, H. Takahashi, O. Onodera (2008)
TDP‐43 mutation in familial amyotrophic lateral sclerosisAnnals of Neurology, 63
J. Hodges, R. Davies, J. Xuereb, B. Casey, M. Broe, T. Bak, J. Kril, G. Halliday (2004)
Clinicopathological correlates in frontotemporal dementiaAnnals of Neurology, 56
Zhiheng He, A. Ismail, L. Kriazhev, G. Sadvakassova, A. Bateman (2002)
Progranulin (PC-cell-derived growth factor/acrogranin) regulates invasion and cell survival.Cancer research, 62 19
M. Grossman, E. Wood, P. Moore, M. Neumann, L. Kwong, M. Forman, C. Clark, L. McCluskey, B. Miller, V. Lee, J. Trojanowski (2007)
TDP-43 pathologic lesions and clinical phenotype in frontotemporal lobar degeneration with ubiquitin-positive inclusions.Archives of neurology, 64 10
V. Deerlin, J. Leverenz, L. Bekris, T. Bird, Wuxing Yuan, L. Elman, Dana Clay, E. Wood, A. Chen-Plotkin, M. Martinez-Lage, E. Steinbart, L. McCluskey, M. Grossman, M. Neumann, I-Lin Wu, Wei-Shiung Yang, R. Kalb, D. Galasko, T. Montine, J. Trojanowski, V. Lee, G. Schellenberg, Chang-En Yu (2008)
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysisThe Lancet Neurology, 7
M. Cruts, I. Gijselinck, J. Zee, S. Engelborghs, H. Wils, D. Pirici, R. Rademakers, R. Vandenberghe, B. Dermaut, Jean-Jacques Martin, C. Duijn, K. Peeters, R. Sciot, P. Santens, T. Pooter, Maria Mattheijssens, M. Broeck, Ivy Cuijt, K. Vennekens, P. Deyn, S. Kumar-Singh, C. Broeckhoven (2006)
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21Nature, 442
L. Igaz, L. Kwong, A. Chen-Plotkin, M. Winton, T. Unger, yan xu, M. Neumann, J. Trojanowski, V. Lee (2009)
Expression of TDP-43 C-terminal Fragments in Vitro Recapitulates Pathological Features of TDP-43 Proteinopathies*Journal of Biological Chemistry, 284
J. Tatom, David Wang, Robert Dayton, O. Skalli, M. Hutton, D. Dickson, R. Klein (2009)
Mimicking aspects of frontotemporal lobar degeneration and Lou Gehrig's disease in rats via TDP-43 overexpression.Molecular therapy : the journal of the American Society of Gene Therapy, 17 4
L. Corrado, A. Ratti, C. Gellera, E. Buratti, B. Castellotti, Y. Carlomagno, N. Ticozzi, L. Mazzini, L. Testa, F. Taroni, F. Baralle, V. Silani, S. D'alfonso (2009)
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosisHuman Mutation, 30
R. Rademakers, J. Eriksen, M. Baker, Todd Robinson, Z. Ahmed, S. Lincoln, N. Finch, Nicola Rutherford, R. Crook, K. Josephs, B. Boeve, D. Knopman, R. Petersen, J. Parisi, R. Caselli, Z. Wszolek, R. Uitti, H. Feldman, M. Hutton, I. Mackenzie, N. Graff-Radford, D. Dickson (2008)
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementiaHuman Molecular Genetics, 17
B. Crum (2009)
Clinical and Pathological Continuum of Multisystem TDP-43 ProteinopathiesYearbook of Neurology and Neurosurgery, 2009
K.A. Josephs, R.C. Petersen, D.S. Knopman (2006)
Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSPNeurology, 66
The authors of this paper discuss the association of FTLD-TDP subtypes with clinical FTD phenotypes
24@BULLET] discuss the TARDBP mutation leading to familial ALS. A genetic and histopathologic analysis is presented
A. Chen-Plotkin, F. Geser, J. Plotkin, C. Clark, L. Kwong, Wuxing Yuan, M. Grossman, V. Deerlin, J. Trojanowski, V. Lee (2008)
Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration.Human molecular genetics, 17 10
K. Sleegers, N. Brouwers, P. Damme, S. Engelborghs, I. Gijselinck, J. Zee, K. Peeters, Maria Mattheijssens, M. Cruts, R. Vandenberghe, P. Deyn, W. Robberecht, C. Broeckhoven (2009)
Serum biomarker for progranulin‐associated frontotemporal lobar degenerationAnnals of Neurology, 65
J. Sreedharan, I. Blair, V. Tripathi, Xun Hu, C. Vance, B. Rogelj, S. Ackerley, S. Ackerley, J. Durnall, K. Williams, E. Buratti, F. Baralle, J. Belleroche, J. Mitchell, P. Leigh, A. Al-Chalabi, C. Miller, C. Miller, G. Nicholson, G. Nicholson, C. Shaw (2008)
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral SclerosisScience, 319
Raymond Faber (1999)
Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria.Neurology, 53
K. Josephs, Wen‐lang Lin, Z. Ahmed, D. Stroh, N. Graff-Radford, D. Dickson (2008)
Frontotemporal lobar degeneration with ubiquitin-positive, but TDP-43-negative inclusionsActa Neuropathologica, 116
William Hu, H. Seelaar, K. Josephs, D. Knopman, B. Boeve, E. Sorenson, L. McCluskey, L. Elman, H. Schelhaas, J. Parisi, Benno Kuesters, V. Lee, J. Trojanowski, R. Petersen, J. Swieten, M. Grossman (2009)
Survival profiles of patients with frontotemporal dementia and motor neuron disease.Archives of neurology, 66 11
T. Kasai, T. Tokuda, N. Ishigami, H. Sasayama, Penelope Foulds, D. Mitchell, D. Mann, D. Allsop, M. Nakagawa (2008)
Increased TDP-43 protein in cerebrospinal fluid of patients with amyotrophic lateral sclerosisActa Neuropathologica, 117
Deepak Sampathu, M. Neumann, L. Kwong, T. Chou, Matthew Micsenyi, Adam Truax, J. Bruce, M. Grossman, J. Trojanowski, V. Lee (2006)
Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies.The American journal of pathology, 169 4
L. Benajiba, I. Ber, A. Camuzat, M. Lacoste, C. Thomas-Antérion, P. Couratier, Solenn Legallic, F. Salachas, D. Hannequin, M. Decousus, L. Lacomblez, E. Guedj, V. Golfier, W. Camu, B. Dubois, D. Campion, V. Meininger, A. Brice (2009)
TARDBP mutations in motoneuron disease with frontotemporal lobar degenerationAnnals of Neurology, 65
Jing Zhu, C. Nathan, W. Jin, Davis Sim, G. Ashcroft, S. Wahl, L. Lacomis, H. Erdjument-Bromage, P. Tempst, C. Wright, A. Ding (2002)
Conversion of Proepithelin to Epithelins Roles of SLPI and Elastase in Host Defense and Wound RepairCell, 111
G. Mckhann, M. Albert, M. Grossman, B. Miller, D. Dickson, J. Trojanowski (2001)
Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease.Archives of neurology, 58 11
E. Buratti, T. Dörk, Elisabetta Zuccato, F. Pagani, M. Romano, F. Baralle (2001)
Nuclear factor TDP‐43 and SR proteins promote in vitro and in vivo CFTR exon 9 skippingThe EMBO Journal, 20
Ryan Mitchell, Willard Freeman, William Randazzo, H. Stephens, John Beard, Zachary Simmons, James Connor (2009)
A CSF biomarker panel for identification of patients with amyotrophic lateral sclerosisNeurology, 72
M. Mesulam, A. Wicklund, N. Johnson, E. Rogalski, G. Léger, A. Rademaker, S. Weintraub, E. Bigio (2008)
Alzheimer and frontotemporal pathology in subsets of primary progressive aphasiaAnnals of Neurology, 63
G. Skibinski, N. Parkinson, Jeremy Brown, L. Chakrabarti, Sarah Lloyd, H. Hummerich, J. Nielsen, J. Hodges, M. Spillantini, T. Thusgaard, S. Brandner, A. Brun, M. Rossor, A. Gade, P. Johannsen, S. Sørensen, S. Gydesen, E. Fisher, J. Collinge (2005)
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementiaNature Genetics, 37
I. Ber, A. Camuzat, D. Hannequin, F. Pasquier, E. Guedj, A. Rovelet-Lecrux, V. Hahn-Barma, J. Zee, F. Clot, S. Bakchine, M. Puel, M. Ghanim, L. Lacomblez, J. Mikol, V. Deramecourt, P. Lejeune, V. Sayette, S. Belliard, M. Vercelletto, C. Meyrignac, C. Broeckhoven, J. Lambert, P. Verpillat, D. Campion, M. Habert, B. Dubois, A. Brice (2008)
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.Brain : a journal of neurology, 131 Pt 3
M. Gorno-Tempini, S. Brambati, S. Brambati, V. Ginex, J. Ogar, J. Ogar, J. Ogar, N. Dronkers, A. Marcone, D. Perani, V. Garibotto, S. Cappa, B. Miller (2008)
The logopenic/phonological variant of primary progressive aphasiaNeurology, 71
M. Forman, J. Farmer, Julene Johnson, C. Clark, S. Arnold, H. Coslett, A. Chatterjee, H. Hurtig, J. Karlawish, H. Rosen, V. Deerlin, V. Lee, B. Miller, J. Trojanowski, M. Grossman (2006)
Frontotemporal dementia: Clinicopathological correlationsAnnals of Neurology, 59
J. Zee, H. Urwin, S. Engelborghs, M. Bruyland, R. Vandenberghe, B. Dermaut, Tim Pooter, K. Peeters, P. Santens, P. Deyn, E. Fisher, J. Collinge, A. Isaacs, C. Broeckhoven (2008)
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.Human molecular genetics, 17 2
J. Snowden, D. Neary, D. Mann (2007)
Frontotemporal lobar degeneration: clinical and pathological relationshipsActa Neuropathologica, 114
E. Kabashi, P. Valdmanis, P. Dion, D. Spiegelman, B. McConkey, C. Velde, J. Bouchard, L. Lacomblez, K. Pochigaeva, F. Salachas, P. Pradat, W. Camu, V. Meininger, N. Dupré, G. Rouleau (2008)
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosisNature Genetics, 40
William Hu, J. Mandrekar, J. Parisi, D. Knopman, B. Boeve, R. Petersen, M. Hutton, D. Dickson, K. Josephs (2007)
Clinical features of pathologic subtypes of behavioral--variant frontotemporal dementia.Archives of neurology, 64 11
I. Mackenzie, D. Foti, J. Woulfe, T. Hurwitz (2008)
Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions.Brain : a journal of neurology, 131 Pt 5
TAR DNA-binding protein of about 43 kDa (TDP-43) is the main ubiquitinated peptide in tau-negative frontotemporal lobar degeneration (FTLD). TDP-43 is typically a nuclear protein, and its aggregation and cytoplasmic translocation are thought to represent major steps in the pathogenesis of FTLD due to TDP-43 proteinopathy (FTLD-TDP). Certain clinical syndromes of frontotemporal dementia are preferentially associated with pathologic findings of FTLD-TDP, and TDP-43 pathology represents the connection between FTLD-TDP and amyotrophic lateral sclerosis. Recent advances in clinical, genetic, and pathologic studies of FTLD-TDP and amyotrophic lateral sclerosis have shed light on the potentially pathogenic role of TDP-43 and identified TDP-43 itself as a candidate biomarker for antemortem diagnosis of FTLD-TDP.
Current Neurology and Neuroscience Reports – Springer Journals
Published: Aug 1, 2009
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.