Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43

Acta Neuropathologica

Volumn 113, Issue 5, 2007, Pages 521-533

  Davidson, Yvonne ^a   Kelley, Thomas ^a   Mackenzie, Ian R A ^b   Pickering Brown, Stuart ^a   Du Plessis, Daniel ^a   Neary, David ^a   Snowden, Julie S ^a   Mann, David M A ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b VANCOUVER GENERAL HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR PROTEIN; TAR DNA BINDING PROTEIN; TDP 43; UNCLASSIFIED DRUG;

ADULT; AGED; ANTERIOR HORN CELL; ARTICLE; BRAIN CORTEX; BRAIN DEGENERATION; BRAIN STEM; CELL INCLUSION; CELL NUCLEUS INCLUSION BODY; CLINICAL ARTICLE; CONTROLLED STUDY; FACIAL NERVE NUCLEUS; FEMALE; FRONTAL LOBE; FRONTOTEMPORAL DEMENTIA; FRONTOTEMPORAL LOBAR DEGENERATION; HIPPOCAMPUS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOGLOSSAL NUCLEUS; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; INFERIOR OLIVE; MALE; MOTONEURON; MOTOR NEURON DISEASE; NERVE CELL; NEURITE; PRIORITY JOURNAL; SPINAL CORD; SUPERIOR OLIVARY NUCLEUS; TEMPORAL LOBE; TRIGEMINAL NUCLEUS; UBIQUITINATION;

ADOLESCENT; ADULT; AGED; CEREBRAL CORTEX; DEMENTIA; DNA-BINDING PROTEINS; FEMALE; HIPPOCAMPUS; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; MALE; MIDDLE AGED; NEURONS; UBIQUITIN;

EID: 34247625005     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-006-0189-y     Document Type: Article

References (39)

1. Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, Mann D, Tsuchiya K, Yoshida M, Hashizume Y, Oda T (2006) TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 351:602-611
2. Baker M, Mackenzie IRA, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M (2006) Mutations in Progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442:916-919
3. Bergmann M, Kuchelmeister K, Schmid KW, Kretzschmar HA, Schroder R (1996) Different variants of frontotemporal dementia: A neuropathological and immunohistochemical study. Acta Neuropathol 92:170-179
4. Boeve BF, Baker M, Dickson DW, Parisi JE, Giannini C, Jsephs KA, Hutton M, Pickering-Brown SM, Rademakers R, Tang-Wai D, Jack CR, Kantarci K, Shiung MM, Golde T, Smith GE, Geda YE, Knopman DS, Petersen RC (2006) Frontotemporal dementia and parkinsonism associated with the IVS1 + 1G → A mutation in progranulin: A clinicopathologic study. Brain 129:3103-3114
5. Brun A, Englund E, Gustafson L, Passant U, Mann DMA, Neary D, Snowden JS (1994) Clinical, neuropsychological and neuropathological criteria for fronto-temporal dementia. J Neurol Neurosurg Psychiatr 57:416-418
6. Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin J-J, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cujit I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442:920-924
7. Forman MS, Farmer J, Johnson JK, Clark CM, Arnold SE, Coslett HB, Chatterjee A, Hurtig HI, Karlawish JH, Rosen HJ, Van Deerlin V, Lee V M-Y, Miller BL, Trojanowski JQ, Grossman M (2006) Frontotemporal dementia: Clinicopathological correlations. Ann Neurol 59:952-962
8. Froelich Fabre S, Axelman P, Almkvist A, Basun H, Lannfelt L (2003) Extended investigation of tau and mutation screening of other candidate genes on chromosome 17q21 in a Swedish FTDP-17 family. Am J Med Genet Part B (Neuropsychiatric Genet) 121B:112-118
9. Hodges JR, Davies RR, Xuereb JH, Casey B, Broe M, Bak TH, Kril JJ, Halliday GM (2004) Clinicopathological correlates in frontotemporal dementia. Ann Neurol 56:399-406
10. Josephs KA, Holton JL, Rossor MN, Godbolt AK, Osawa T, Strand K, Khan N, Al-Sarraj S, Revesz T (2004) Frontotemporal lobar degeneration and ubiquitin immunohistochemistry. Neuropathol Appl Neurobiol 30:369-373
11. Josephs KA, Petersen RC, Knopman DS, Boeve BF, Whitwell JL, Duffy JR, Parisi JE, Dickson DW (2006) Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP. Neurology 66:41-48
12. Katsuse O, Dickson DW (2005) Ubiquitin immunohistochemistry of frontotemporal lobar degeneration differentiates cases with and without motor neurone disease. Alzheimer Dis Assoc Disord 19(Suppl 1):S37-S43
13. Kovari E, Gold G, Giannakopoulos P, Bouras C (2004) Cortical ubiquitin-positive inclusions in frontotemporal dementia without motor neurone disease: A quantitative immunocytochemical study. Acta Neuropathol 108:207-212
14. Leigh PN, Anderton BH, Dodson A, Gallo JM, Swash M, Power DM (1988) Ubiquitin deposits in anterior horn cells in motor neurone disease. Neurosci Lett 93:197-203
15. Lipton AM, White CL III, Bigio EH (2004) Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration. Acta Neuropathol 108:379-385
16. Lowe JS, Lennox G, Jefferson D, Morrell K, McQuire D, Gray T, Landon M, Doherty FJ, Mayer RJ (1988) A filamentous inclusion body within anterior horn neurones in motor neurone disease detected by immunocytochemical localisation of ubiquitin. Neurosci Lett 94:203-210
17. Mackenzie IRA, Feldman H (2003) The relationship between extramotor ubiquitin-immunoreactive neuronal inclusions and dementia in motor neurone disease. Acta Neuropathol 105:98-102
18. Mackenzie IRA, Feldman HH (2005) Ubiquitin immunohistochemistry suggests classic motor neuron disease, motor neuron disease with dementia and Frontotemporal dementia of the motor neuron disease type represent a clinicopathologic spectrum. J Neuropathol Exp Neurol 64:730-739
19. Mackenzie IRA, Baborie A, Pickering-Brown SM, Du Plessis D, Jaros E, Perry RH, Neary D, Snowden JS, Mann DMA (2006) Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration. Acta Neuropathol 112:539-549
20. Mackenzie IRA, Baker M, Pickering-Brown S, Hsiung G-Y R, Lindholm C, Dwosh E, Gass J, Cannon A, Rademakers R, Hutton M, Feldman H (2006) The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain 129:3081-3090
21. Mackenzie IR, Baker M, West G, Woulfe J, Qadi N, Gass J, Cannon A, Adamson J, Feldman H, Lindholm C, Melquist S, Pettman R, Sadovnick AD, Dwosh E, Whiteheart SW, Hutton M, Pickering-Brown SM (2006) A family with tau-negative dementia and neuronal intranuclear inclusions linked to chromosome 17. Brain 129:853-867
22. Mackenzie IRA, Shi J, Shaw CL, Du Pleassis D, Neary D, Snowden D, Mann DMA (2006) dementia lacking distinctive histology (DLDH) revisited. Acta Neuropathol 112:551-559
23. Mann DMA (2005) The genetics and molecular pathology of frontotemporal lobar degeneration. In: Burns A, O'Brien J, Ames D (eds) Dementia, 3rd edn. Hodder Arnold, London, pp 689-701
24. McKhann GM, Albert MS, Grossman M, Miller B, Dickson DW, Trojanowski JQ (2001) Workgroup on Frontotemporal dementia and Pick's disease; clinical and pathological diagnosis of frontotemporal dementia: Report of the Workgroup on Frontotemporal dementia and Pick's disease. Arch Neurol 59:1203-1204
25. Mott RT, Dickson DW, Trojanowski JQ, Zhukareva V, Lee VM, Forman M, Van Deerlin V, Ervin JF, Wang DS, Schmechel DE, Hulette CM (2005) Neuropathologic, biochemical, and molecular characterization of the frontotemporal dementias. J Neuropathol Exp Neurol 64:420-428
26. Mukherjee O, Pastor P, Cairns NJ, Chakraverty S, Kauwe JSK, Shears S, Behrens MJ, Budde J, Hinrichs AL, Norton J, Levich D, Taylor-Reinwald L, Gitcho M, Tu P-H, Grinberg LT, Liscic RM, Armendariz J, Morris JC, Goate AM (2006) HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Ann Neurol 60:314-322
27. Neary D, Snowden JS, Mann DMA (2005) Frontotemporal dementia. Lancet Neurol 4:771-779
28. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF (1998) Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria. Neurology 51:1546-1554
29. Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, Bruce J, Schuk T, Grossman M, Clark CM, McCluskey LF, Miller BL, Masliah E, Mackenzie IR, Feldman H, Feiden W, Kretzschmar H, Trojanowski JQ, Lee V M-Y (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314:130-133
30. Pickering-Brown SM, Baker M, Gass J, Boeve BF, Loy CT, Brooks WS, Mackenzie IR, Martins RN, Kwok JB, Halliday GM, Kril JJ, Schofield PR, Mann DM, Hutton M (2006) Mutations in progranulin explain atypical phenotypes with variants in MAPT. Brain 129:3124-3126
31. Rademakers R, Cruts M, Dermaut B, Sleegers K, Rosso SM, Van Den Broeck M, Backhovens H, van Swieten JC, van Duijn CM, van Broeckhoven C (2002) Tau-negative frontal lobe dementia at 17q21: Significant finemapping of the candidate region to a 4.8-cm interval. Mol Psychiatr 7:1064-1074
32. Rosso SM, Kamphorst W, de Graaf B, Willemsen R, Ravid R, Niermeijer MF, Spillantini MG, Heutink P, van Swieten JC (2001) Familial frontotemporal dementia with ubiquitin positive inclusions is linked to chromosome 17q21-22. Brain 124:1948-1957
33. Sampathu DM, Neumann M, Kwong LK, Chou TT, Micsenyi M, Truax A, Bruce J, Grossman M, Trojanowski JQ, Lee V-M Y (2006) Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol 169:1343-1352
34. Shi J, Shaw CL, Richardson AMT, Bailey K, Tian J, Varma AR, Neary D, Snowden JS, Mann DMA (2005) Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation. Acta Neuropathol 110:501-512
35. Shiarli AM, Jennings R, Shi J, Bailey K, Davidson Y, Tian J, Bigio E, Ghetti B, Arima K, Iseki E, Murayama S, Kretzchmar H, Lippa C, Halliday G, MacKenzie J, Khan N, Ravid R, Dickson D, Wszolek Z, Iwatsubo T, Pickering-Brown SM, Mann DMA (2006) Comparative tau pathology in Frontotemporal Lobar Degeneration and Alzheimer's disease. Neuropathol Appl Neurobiol 32:374-387
36. Snowden JS, Neary D, Mann DMA (1996) Fronto-temporal lobar degeneration: fronto-temporal dementia, progressive aphasia, semantic dementia. Churchill Livingstone, Edinburgh pp 1-227
37. Snowden JS, Pickering-Brown SM, Mackenzie IR, Richardson AMT, Varma A, Neary D, Mann DMA (2006) Progranulin gene mutations associated with frontotemporal dementia and progressive aphasia. Brain 129:3091-3102
38. Taniguchi S, McDonagh AM, Pickering-Brown SM, Umeda Y, Iwatsubo T, Hasegawa M, Mann DMA (2004) The neuropathology of frontotemporal lobar degeneration with respect to the cytological and biochemical characteristics of tau protein. Neuropathol Appl Neurobiol 30:1-18
39. Woulfe J, Kertesz A, Munoz D (2001) Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions. Acta Neuropathol 102:94-102