Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update.
作者： Julie van der Zee , Ilse Gijselinck , Daniel Pirici , Samir Kumar-Singh , Marc Cruts
DOI: 10.1159/000101847
关键词: Neurodegeneration 、 Ubiquitin-positive inclusions 、 Gene 、 Frontotemporal lobar degeneration 、 Valosin-containing protein 、 Cytoplasm 、 Charged multivesicular body protein 2B 、 Genetic etiology 、 Pathology 、 Genetics 、 Biology
摘要: Frontotemporal lobar degeneration (FTLD) is a clinically, pathologically and genetically highly complex disorder. In the last few years enormous progress has been made in dissecting genetic etiology of FTLD. Mutations have identified progranulin gene (PGRN), charged multivesicular body protein 2B (CHMP2B) valosin-containing (VCP). these genes all lead to FTLD pathology characterized by ubiquitin-immunoreactive neuronal cytoplasmic intranuclear lentiform inclusions (FTLD-U). The similar suggests that may be connected trough common disease pathway leading neurodegeneration formation pathognomic inclusions. This review focuses on molecular processes underlying FTLD-U pathology.
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Mike Hutton, Corinne L. Lendon, Patrizia Rizzu, Matt Baker, Susanne Froelich, Henry Houlden, Stuart Pickering-Brown, Sumi Chakraverty, Adrian Isaacs, Andrew Grover, Jennifer Hackett, Jennifer Adamson, Sarah Lincoln, Dennis Dickson, Peter Davies, Ronald C. Petersen, Martijn Stevens, Esther de Graaff, Erwin Wauters, Jeltje van Baren, Marcel Hillebrand, Marijke Joosse, Jennifer M. Kwon, Petra Nowotny, Lien Kuei Che, Joanne Norton, John C. Morris, Lee A. Reed, John Trojanowski, Hans Basun, Lars Lannfelt, Michael Neystat, Stanley Fahn, Francis Dark, Tony Tannenberg, Peter R. Dodd, Nick Hayward, John B. J. Kwok, Peter R. Schofield, Athena Andreadis, Julie Snowden, David Craufurd, David Neary, Frank Owen, Ben A. Oostra, John Hardy, Alison Goate, John van Swieten, David Mann, Timothy Lynch, Peter Heutink, Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 Nature. ,vol. 393, pp. 702- 705 ,(1998) , 10.1038/31508
K. A. Josephs, J. L. Holton, M. N. Rossor, A. K. Godbolt, T. Ozawa, K. Strand, N. Khan, S. Al-Sarraj, T. Revesz, Frontotemporal lobar degeneration and ubiquitin immunohistochemistry Neuropathology and Applied Neurobiology. ,vol. 30, pp. 369- 373 ,(2004) , 10.1111/J.1365-2990.2003.00545.X
Mark S. Forman, Ian R. Mackenzie, Nigel J. Cairns, Eric Swanson, Philip J. Boyer, David A. Drachman, Bharati S. Jhaveri, Jason H. Karlawish, Alan Pestronk, Thomas W. Smith, Pang-Hsien Tu, Giles D. J. Watts, William R. Markesbery, Charles D. Smith, Virginia E. Kimonis, Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. Journal of Neuropathology and Experimental Neurology. ,vol. 65, pp. 571- 581 ,(2006) , 10.1097/00005072-200606000-00005
E. Ratnavalli, C. Brayne, K. Dawson, J. R. Hodges, The prevalence of frontotemporal dementia Neurology. ,vol. 58, pp. 1615- 1621 ,(2002) , 10.1212/WNL.58.11.1615
Parvoneh Poorkaj, Murray Grossman, Ellen Steinbart, Haydeh Payami, Adele Sadovnick, David Nochlin, Takeshi Tabira, John Q. Trojanowski, Soo Borson, Douglas Galasko, Stephen Reich, Bruce Quinn, Gerard Schellenberg, Thomas D. Bird, Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. JAMA Neurology. ,vol. 58, pp. 383- 387 ,(2001) , 10.1001/ARCHNEUR.58.3.383
Markus Babst, David J. Katzmann, Eden J. Estepa-Sabal, Timo Meerloo, Scott D. Emr, Escrt-III: an endosome-associated heterooligomeric protein complex required for mvb sorting. Developmental Cell. ,vol. 3, pp. 271- 282 ,(2002) , 10.1016/S1534-5807(02)00220-4
D. Neary, J. S. Snowden, L. Gustafson, U. Passant, D. Stuss, S. Black, M. Freedman, A. Kertesz, P. H. Robert, M. Albert, K. Boone, B. L. Miller, J. Cummings, D. F. Benson, Frontotemporal lobar degeneration A consensus on clinical diagnostic criteria Neurology. ,vol. 51, pp. 1546- 1554 ,(1998) , 10.1212/WNL.51.6.1546
Anne M. Lipton, Charles L. White, Eileen H. Bigio, Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration. Acta Neuropathologica. ,vol. 108, pp. 379- 385 ,(2004) , 10.1007/S00401-004-0900-9
RJ Harvey, M Skelton-Robinson, MN1738690 Rossor, None, The prevalence and causes of dementia in people under the age of 65 years Journal of Neurology, Neurosurgery & Psychiatry. ,vol. 74, pp. 1206- 1209 ,(2003) , 10.1136/JNNP.74.9.1206
R Rademakers, M Cruts, B Dermaut, K Sleegers, S M Rosso, M Van den Broeck, H Backhovens, J van Swieten, C M van Duijn, C Van Broeckhoven, Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval Molecular Psychiatry. ,vol. 7, pp. 1064- 1074 ,(2002) , 10.1038/SJ.MP.4001198