NOVEL GRN MUTATION PRESENTING AS AN APHASIC DEMENTIA AND EVOLVING INTO CORTICOBASAL SYNDROME

被引:1
作者
Botha, Hugo [1 ]
Finch, NiCole A. [7 ]
Gavrilova, Ralitza H. [2 ]
Machulda, Mary M. [3 ]
Fields, Julie A. [3 ]
Lowe, Val J. [4 ]
Petersen, Ronald C. [1 ]
Jack, Clifford R., Jr. [5 ]
Dheel, Christina M. [6 ]
Gearhart, Debra J. [6 ]
Knopman, David S. [1 ]
Rademakers, Rosa [7 ]
Boeve, Bradley F. [1 ]
机构
[1] Mayo Clin, Dept Neurol, Rochester, MN 55905 USA
[2] Mayo Clin, Dept Clin Genom & Neurol, Rochester, MN USA
[3] Mayo Clin, Dept Psychiat & Psychol, Rochester, MN USA
[4] Mayo Clin, Dept Nucl Med, Rochester, MN USA
[5] Mayo Clin, Dept Radiol, Rochester, MN USA
[6] Mayo Clin, Alzheimers Dis Res Ctr, Rochester, MN USA
[7] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA
关键词
PROGRANULIN; VARIABILITY;
D O I
10.1212/NXG.0000000000000201
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页数:4
相关论文
共 9 条
[1]   Criteria for the diagnosis of corticobasal degeneration [J].
Armstrong, Melissa J. ;
Litvan, Irene ;
Lang, Anthony E. ;
Bak, Thomas H. ;
Bhatia, Kailash P. ;
Borroni, Barbara ;
Boxer, Adam L. ;
Dickson, Dennis W. ;
Grossman, Murray ;
Hallett, Mark ;
Josephs, Keith A. ;
Kertesz, Andrew ;
Lee, Suzee E. ;
Miller, Bruce L. ;
Reich, Stephen G. ;
Riley, David E. ;
Tolosa, Eduardo ;
Troester, Alexander I. ;
Vidailhet, Marie ;
Weiner, William J. .
NEUROLOGY, 2013, 80 (05) :496-503
[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]   Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration [J].
Gass, Jennifer ;
Cannon, Ashley ;
Mackenzie, Ian R. ;
Boeve, Bradley ;
Baker, Matt ;
Adamson, Jennifer ;
Crook, Richard ;
Melquist, Stacey ;
Kuntz, Karen ;
Petersen, Ron ;
Josephs, Keith ;
Pickering-Brown, Stuart M. ;
Graff-Radford, Neill ;
Uitti, Ryan ;
Dickson, Dennis ;
Wszolek, Zbigniew ;
Gonzalez, John ;
Beach, Thomas G. ;
Bigio, Eileen ;
Johnson, Nancy ;
Weintraub, Sandra ;
Mesulam, Marsel ;
White, Charles L., III ;
Woodruff, Bryan ;
Caselli, Richard ;
Hsiung, Ging-Yuek ;
Feldman, Howard ;
Knopman, Dave ;
Hutton, Mike ;
Rademakers, Rosa .
HUMAN MOLECULAR GENETICS, 2006, 15 (20) :2988-3001
[4]   Comparison of family histories in FTLD subtypes and related tauopathies [J].
Goldman, JS ;
Farmer, JM ;
Wood, EM ;
Johnson, JK ;
Boxer, A ;
Neuhaus, J ;
Lomen-Hoerth, C ;
Wilhelmsen, KC ;
Lee, VMY ;
Grossman, M ;
Miller, BL .
NEUROLOGY, 2005, 65 (11) :1817-1819
[5]   Prominent phenotypic variability associated with mutations in Progranulin [J].
Kelley, Brendan J. ;
Haidar, Wael ;
Boeve, Bradley F. ;
Baker, Matt ;
Graff-Radford, Neill R. ;
Krefft, Thomas ;
Frank, Andrew R. ;
Jack, Clifford R., Jr. ;
Shiung, Maria ;
Knopman, David S. ;
Josephs, Keith A. ;
Parashos, Sotirios A. ;
Rademakers, Rosa ;
Hutton, Mike ;
Pickering-Brown, Stuart ;
Adamson, Jennifer ;
Kuntz, Karen M. ;
Dickson, Dennis W. ;
Parisi, Joseph E. ;
Smith, Glenn E. ;
Ivnik, Robert J. ;
Petersen, Ronald C. .
NEUROBIOLOGY OF AGING, 2009, 30 (05) :739-751
[6]   Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study [J].
Le Ber, Isabelle ;
Camuzat, Agnes ;
Hannequin, Didier ;
Pasquier, Florence ;
Guedj, Eric ;
Rovelet-Lecrux, Anne ;
Hahn-Barma, Valerie ;
van der Zee, Julie ;
Clot, Fabienne ;
Bakchine, Serge ;
Puel, Michele ;
Ghanim, Mustapha ;
Lacomblez, Lucette ;
Mikol, Jacqueline ;
Deramecourt, Vincent ;
Lejeune, Pascal ;
de la Sayette, Vincent ;
Belliard, Serge ;
Vercelletto, Martine ;
Meyrignac, Christian ;
Van Broeckhoven, Christine ;
Lambert, Jean-Charles ;
Verpillat, Patrice ;
Campion, Dominique ;
Habert, Marie-Odile ;
Dubois, Bruno ;
Brice, Alexis .
BRAIN, 2008, 131 :732-746
[7]  
Passov V, 2011, ARCH NEUROL-CHICAGO, V68, P376, DOI 10.1001/archneurol.2011.26
[8]   Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations [J].
Rohrer, Jonathan D. ;
Ridgway, Gerard R. ;
Modat, Marc ;
Ourselin, Sebastien ;
Mead, Simon ;
Fox, Nick C. ;
Rossor, Martin N. ;
Warren, Jason D. .
NEUROIMAGE, 2010, 53 (03) :1070-1076
[9]  
Yu CE, 2010, ARCH NEUROL-CHICAGO, V67, P161, DOI 10.1001/archneurol.2009.328