Genetics and dementia: Risk factors, diagnosis, and management
作者： Ging-Yuek Robin Hsiung , A. Dessa Sadovnick
DOI: 10.1016/J.JALZ.2007.07.010
关键词:
摘要: New developments in molecular genetics have improved our understanding on a number of neurodegenerative dementias considerably, especially Alzheimer's disease and frontotemporal dementia. However, this explosion information can be overwhelming to clinicians, making it difficult integrate into regular clinical practice. In article, we briefly reviewed current regarding causative genetic mutations risk factors the major forms dementia, which provided background for discussion Third Canadian Consensus Conference Diagnosis Treatment Dementia. The principles counselling were applied. Guidelines recommendations application assessment, diagnosis, management patients families with dementia summarized.
alzheimersanddementia.com
elsevier.com参考文章(77)
Vassilis I. Zannis, Dimitris Kardassis, Eleni Economou Zanni, Genetic Mutations Affecting Human Lipoproteins, Their Receptors, and Their Enzymes Advances in human genetics. ,vol. 21, pp. 145- 319 ,(1993) , 10.1007/978-1-4615-3010-7_3
Ekaterina Rogaeva, Anurag Tandon, Peter H. St. George-Hyslop, Genetic markers in the diagnosis of Alzheimer's disease Journal of Alzheimer's Disease. ,vol. 3, pp. 293- 304 ,(2001) , 10.3233/JAD-2001-3304
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
Ellen M. Wijsman, Gerard D. Schellenberg, Perry C. Gaskell, George M. Martin, Leojean Anderson, Kathleen A. Welsh, Deborah K. Moore, Margaret A. Pericak-Vance, Thomas D. Bird, Larry A. Yamaoka, Allen D. Roses, Christopher M. Clark, Jacqueline L. Bebout, Linkage analysis of familial Alzheimer disease, using chromosome 21 markers. American Journal of Human Genetics. ,vol. 48, pp. 563- 583 ,(1991)
A. L. Brunkan, A. M. Goate, Presenilin function and gamma-secretase activity. Journal of Neurochemistry. ,vol. 93, pp. 769- 792 ,(2005) , 10.1111/J.1471-4159.2005.03099.X
Stephen J. Cutler, Lynne G. Hodgson, To test or not to test: interest in genetic testing for Alzheimer's disease among middle-aged adults. American Journal of Alzheimers Disease and Other Dementias. ,vol. 18, pp. 9- 20 ,(2003) , 10.1177/153331750301800106
E. A. Rogaeva, K.C. Fafel, Y.Q. Song, H. Medeiros, C. Sato, Y. Liang, E. Richard, E.I. Rogaev, P. Frommelt, A. D. Sadovnick, W. Meschino, K. Rockwood, M. A. Boss, R. Mayeux, P. St. George-Hyslop, Screening for PS1 mutations in a referral-based series of AD cases: 21 Novel mutations Neurology. ,vol. 57, pp. 621- 625 ,(2001) , 10.1212/WNL.57.4.621
ANNE JOUTEL, CHRISTOPHE CORPECHOT, ANNE DUCROS, KATAYOUN VAHEDI, HUGUES CHABRIAT, PHILIPPE MOUTON, SONIA ALAMOWITCH, VALÉRIE DOMENGA, MICHAELLE CÉCILLION, EMMANUELLE MARÉCHAL, JACQUELINE MACIAZEK, CÉLINE VAYSSIÈRE, CORINNE CRUAUD, EMMANUEL-ALAIN CABANIS, MARIE MADELEINE RUCHOUX, JEAN WEISSENBACH, JEAN FRANÇOIS BACH, MARIE GERMAINE BOUSSER, ELISABETH TOURNIER-LASSERVE, Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia. Annals of the New York Academy of Sciences. ,vol. 826, pp. 213- 217 ,(1997) , 10.1111/J.1749-6632.1997.TB48472.X
G.-Y. R. Hsiung, Apolipoprotein E ε4 genotype as a risk factor for cognitive decline and dementia: data from the Canadian Study of Health and Aging Canadian Medical Association Journal. ,vol. 171, pp. 863- 867 ,(2004) , 10.1503/CMAJ.1031789
José L. Molinuevo, Luis Pintor, Josep Mª Peri, Alberto Lleó, Rafael Oliva, Teodor Marcos, Rafael Blesa, Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias American Journal of Alzheimers Disease and Other Dementias. ,vol. 20, pp. 233- 238 ,(2005) , 10.1177/153331750502000408