Mutations in progranulin explain atypical phenotypes with variants in MAPT

被引：76

作者：

Pickering-Brown, Stuart M.

Baker, Matt

Gass, Jenny

Boeve, Bradley F.

Loy, Clement T.

Brooks, William S.

Mackenzie, Ian R. A.

Martins, Ralph N.

Kwok, John B. J.

Halliday, Glenda M.

Kril, Jillian

Schofield, Peter R.

Mann, David M. A.

Hutton, Mike

机构：

[1] Univ Manchester, Div Regenerat Med, Manchester M13 9PT, Lancs, England

[2] Univ Manchester, Hope Hosp, Div Med & Neurosci, Clin Neurosci Res Grp, Salford M6 8HD, Lancs, England

[3] Mayo Clin Jacksonville, Dept Neurosci, Jacksonville, FL 32224 USA

[4] Mayo Clin, Dept Neurol, Rochester, MN USA

[5] Garvan Inst Med Res, Darlinghurst, NSW 2010, Australia

[6] Prince Wales Med Res Inst, Randwick, NSW 2031, Australia

[7] Univ New S Wales, Sydney, NSW 2052, Australia

[8] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V5Z 1M9, Canada

[9] Vancouver Coastal Hlth, Vancouver, BC, Canada

[10] Univ Sydney, Discipline Med, Sydney, NSW 2006, Australia

[11] Univ Sydney, Discipline Pathol, Sydney, NSW 2006, Australia

来源：

BRAIN | 2006年 / 129卷

基金：

英国医学研究理事会;

关键词：

frontotemporal dementia; FTLD-U; MAPT; progranulin;

D O I：

10.1093/brain/awl289

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in presenilin-1 (PSEN1) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17). However, there have been reports of mutations in PSEN1 and MAPT associated with cases of FTD with ubiquitin-positive tau-negative inclusion pathology. Here, we demonstrate that the MAPT variants are almost certainly rare benign polymorphisms as all of these cases harbour mutations in Progranulin (PGRN). Mutations in PGRN were recently shown to cause ubiquitin-positive FTDP-17.

引用

页码：3124 / 3126

页数：3

共 12 条

[1] A presenilin 1 mutation associated with familial frontotemporal dementia inhibits γ-secretase cleavage of APP and notch [J].

Amtul, Z ;

Lewis, PA ;

Piper, S ;

Crook, R ;

Baker, M ;

Findlay, K ;

Singleton, A ;

Hogg, M ;

Younkin, L ;

Younkin, SG ;

Hardy, J ;

Hutton, M ;

Boeve, BF ;

Tang-Wai, D ;

Golde, TE .

NEUROBIOLOGY OF DISEASE, 2002, 9 (02) :269-273

[2] Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 [J].

Baker, Matt ;

Mackenzie, Ian R. ;

Pickering-Brown, Stuart M. ;

Gass, Jennifer ;

Rademakers, Rosa ;

Lindholm, Caroline ;

Snowden, Julie ;

Adamson, Jennifer ;

Sadovnick, A. Dessa ;

Rollinson, Sara ;

Cannon, Ashley ;

Dwosh, Emily ;

Neary, David ;

Melquist, Stacey ;

Richardson, Anna ;

Dickson, Dennis ;

Berger, Zdenek ;

Eriksen, Jason ;

Robinson, Todd ;

Zehr, Cynthia ;

Dickey, Chad A. ;

Crook, Richard ;

McGowan, Eileen ;

Mann, David ;

Boeve, Bradley ;

Feldman, Howard ;

Hutton, Mike .

NATURE, 2006, 442 (7105) :916-919

[3] Frontotemporal dementia and parkinsonism associated with the IVSI plus IG→A mutation in progranulin:: a clinicopathologic study [J].

Boeve, Bradley F. ;

Baker, Matt ;

Dickson, Dennis W. ;

Parisi, Joseph E. ;

Giannini, Caterina ;

Josephs, Keith A. ;

Hutton, Michael ;

Pickering-Brown, Stuart M. ;

Rademakers, Rosa ;

Tang-Wai, David ;

Jack, Clifford R., Jr. ;

Kantarci, Kejal ;

Shiung, Maria M. ;

Golde, Todd ;

Smith, Glenn E. ;

Geda, Yonas E. ;

Knopman, David S. ;

Petersen, Ronald C. .

BRAIN, 2006, 129 :3103-3114

[4] Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 [J].

Cruts, Marc ;

Gijselinck, Ilse ;

van der Zee, Julie ;

Engelborghs, Sebastiaan ;

Wils, Hans ;

Pirici, Daniel ;

Rademakers, Rosa ;

Vandenberghe, Rik ;

Dermaut, Bart ;

Martin, Jean-Jacques ;

van Duijn, Cornelia ;

Peeters, Karin ;

Sciot, Raf ;

Santens, Patrick ;

De Pooter, Tim ;

Mattheijssens, Maria ;

Van den Broeck, Marleen ;

Cuijt, Ivy ;

Vennekens, Krist'l ;

De Deyn, Peter P. ;

Kumar-Singh, Samir ;

Van Broeckhoven, Christine .

NATURE, 2006, 442 (7105) :920-924

[5] Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements [J].

D'Souza, I ;

Poorkaj, P ;

Hong, M ;

Nochlin, D ;

Lee, VMY ;

Bird, TD ;

Schellenberg, GD .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (10) :5598-5603

[6]

GASS J, 2006, IN PRESS HUM MOL GEN

[7] Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 [J].

Hutton, M ;

Lendon, CL ;

Rizzu, P ;

Baker, M ;

Froelich, S ;

Houlden, H ;

Pickering-Brown, S ;

Chakraverty, S ;

Isaacs, A ;

Grover, A ;

Hackett, J ;

Adamson, J ;

Lincoln, S ;

Dickson, D ;

Davies, P ;

Petersen, RC ;

Stevens, M ;

de Graaff, E ;

Wauters, E ;

van Baren, J ;

Hillebrand, M ;

Joosse, M ;

Kwon, JM ;

Nowotny, P ;

Che, LK ;

Norton, J ;

Morris, JC ;

Reed, LA ;

Trojanowski, J ;

Basun, H ;

Lannfelt, L ;

Neystat, M ;

Fahn, S ;

Dark, F ;

Tannenberg, T ;

Dodd, PR ;

Hayward, N ;

Kwok, JBJ ;

Schofield, PR ;

Andreadis, A ;

Snowden, J ;

Craufurd, D ;

Neary, D ;

Owen, F ;

Oostra, BA ;

Hardy, J ;

Goate, A ;

van Swieten, J ;

Mann, D ;

Lynch, T .

NATURE, 1998, 393 (6686) :702-705

[8]

MACKENZIE IRA, 2006, ACTA NEUROPATHO 0810

[9] Frontotemporal lobar degeneration - A consensus on clinical diagnostic criteria [J].

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 .

NEUROLOGY, 1998, 51 (06) :1546-1554

[10] Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene [J].

Pickering-Brown, SM ;

Richardson, AMT ;

Snowden, JS ;

McDonagh, AM ;

Burns, A ;

Braude, W ;

Baker, M ;

Liu, WK ;

Yen, SH ;

Hardy, J ;

Hutton, M ;

Davies, Y ;

Allsop, D ;

Craufurd, D ;

Neary, D ;

Mann, DMA .

BRAIN, 2002, 125 :732-751

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