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Alzheimer Disease

  • Jill S. GoldmanEmail author
Chapter

Abstract

Alzheimer disease (AD) is the most common form of dementia and neurodegenerative disease. Less than 1 % of AD is due to autosomal dominant genes: PSEN 1, PSEN 2, and APP. Susceptibility genes such as APOE contribute to risk in a far larger number of cases. Predictive testing is available for the autosomal dominant genes, but is not recommended for risk genes as they are neither necessary nor sufficient to cause AD. Genetic testing is complicated by capacity to consent, lack of treatment, the need to test an affected family member before predictive testing, and family disagreements about testing.

Keywords

Genetic Counselor Alzheimer Disease Amyloid Precursor Protein Cerebral Amyloid Angiopathy Mini Mental Status Exam 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

Early onset familial Alzheimer disease (MOV 324698 kb)

References

  1. 1.
    Alzheimer’s Association. (2013). 2013 Alzheimer’s disease facts and figures. Alzheimer’s & Dementia, 9(2), 208–245.CrossRefGoogle Scholar
  2. 2.
    American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders (4, text rev.th ed.). Washington, DC: American Psychiatric Association.Google Scholar
  3. 3.
    McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984). Clinical diagnosis of Alzheimer’s disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer’s Disease. Neurology, 34(7), 939–944.PubMedCrossRefGoogle Scholar
  4. 4.
    McKhann, G. M., Knopman, D. S., Chertkow, H., Hyman, B. T., Jack, C. R., Jr., Kawas, C. H., et al. (2011). The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease. Alzheimers Dement, 7(3), 263–269.PubMedCrossRefPubMedCentralGoogle Scholar
  5. 5.
    Balasa, M., Gelpi, E., Antonell, A., Rey, M. J., Sánchez-Valle, R., Molinuevo, J. L., et al. (2011). Clinical features and APOE genotype of pathologically proven early-onset Alzheimer disease. Neurology, 76(20), 720–725.CrossRefGoogle Scholar
  6. 6.
    Roberson, E. D., Hesse, J. H., Rose, K. D., Slama, H., Johnson, J. K., Yaffe, K., et al. (2005). Frontotemporal dementia progresses to death faster than Alzheimer disease. Neurology, 65(5), 719–725.PubMedCrossRefGoogle Scholar
  7. 7.
    Devanand, D. P., Mikhno, A., Pelton, G. H., Cuasay, K., Pradhaban, G., Dileep Kumar, J. S., et al. (2010). Pittsburgh compound B (11C-PIB) and fluorodeoxyglucose (18F-FDG) PET in patients with Alzheimer disease, mild cognitive impairment, and healthy controls. Journal of Geriatric Psychiatry and Neurology, 23(3), 185–198.PubMedCrossRefPubMedCentralGoogle Scholar
  8. 8.
    Massoud, F., & Léger, G. C. (2011). Pharmacological treatment of Alzheimer disease. Canadian Journal of Psychiatry, 56(10), 579–588.Google Scholar
  9. 9.
    Bird, T. D. (1993). Internet. In R. A. Pagon, T. D. Bird, C. R. Dolan, & K. Stephens (Eds.), GeneReviews. Seattle, WA: University of Washington. 1999 Sep 24 [updated 2010 Dec 23].Google Scholar
  10. 10.
    Alzheimer Disease & Frontotemporal Dementia Mutation Database. http://www.molgen.ua.ac.be/ADMutations/
  11. 11.
    McNaughton, D., Knight, W., Guerreiro, R., Ryan, N., Lowe, J., Poulter, M., et al. (2012). Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobiology of Aging, 33(2), 426.e13–21.CrossRefGoogle Scholar
  12. 12.
    Basun, H., Bogdanovic, N., Ingelsson, M., Almkvist, O., Näslund, J., Axelman, K., et al. (2008). Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. Archives of Neurology, 65(4), 499–505.PubMedCrossRefPubMedCentralGoogle Scholar
  13. 13.
    Wu, L., Rosa-Neto, P., Hsiung, G. Y., Sadovnick, A. D., Masellis, M., Black, S. E., et al. (2012). Early-onset familial Alzheimer’s disease (EOFAD). Canadian Journal of Neurological Sciences, 39(4), 436–445.PubMedCrossRefGoogle Scholar
  14. 14.
    Tanzi R. E. (2012). The genetics of Alzheimer disease. Cold Spring Harbor Perspectives Medicine, 2(10), doi 2:a006296.Google Scholar
  15. 15.
    Jayadev, S., Leverenz, J. B., Steinbart, E., Stahl, J., Klunk, W., Yu, C. E., et al. (2010). Alzheimer’s disease phenotypes and genotypes associated with mutations in presenilin 2. Brain, 133(Pt 4), 1143–1154.PubMedCrossRefPubMedCentralGoogle Scholar
  16. 16.
    Gatz, M., Reynolds, C. A., Fratiglioni, L., Johansson, B., Mortimer, J. A., Berg, S., et al. (2006). Role of genes and environments for explaining Alzheimer disease. Archives of General Psychiatry, 63(2), 168–174.PubMedCrossRefGoogle Scholar
  17. 17.
    Farrer, L. A., Cupples, L. A., Haines, J. L., Hyman, B., Kukull, W. A., Mayeux, R., et al. (1997). Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA, 278(16), 1349–1356.PubMedCrossRefGoogle Scholar
  18. 18.
    Genin, E., Hannequin, D., Wallon, D., Sleegers, K., Hiltunen, M., Combarros, O., et al. (2011). APOE and Alzheimer disease: A major gene with semi-dominant inheritance. Molecular Psychiatry, 16(9), 903–907.PubMedCrossRefPubMedCentralGoogle Scholar
  19. 19.
    Goldman, J. S., Hahn, S. E., Catania, J. W., LaRusse-Eckert, S., Butson, M. B., Rumbaugh, M., et al. (2011). Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genetics in Medicine, 13(6), 597–605. Erratum in: Genet Med, 2011. 13(8), 749.PubMedCrossRefPubMedCentralGoogle Scholar
  20. 20.
    Ashida, S., Koehly, L. M., Roberts, J. S., Chen, C. A., Hiraki, S., & Green, R. C. (2010). The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: The REVEAL Study. European Journal of Human Genetics, 18(12), 1296–1301.PubMedCrossRefPubMedCentralGoogle Scholar
  21. 21.
    Vernarelli, J. A., Roberts, J. S., Hiraki, S., Chen, C. A., Cupples, L. A., & Green, R. C. (2010). Effect of Alzheimer disease genetic risk disclosure on dietary supplement use. American Journal of Clinical Nutrition, 91(5), 1402–1407.PubMedCrossRefPubMedCentralGoogle Scholar
  22. 22.
    Zick, C. D., Mathews, C. J., Roberts, J. S., Cook-Deegan, R., Pokorski, R. J., & Green, R. C. (2005). Genetic testing for Alzheimer’s disease and its impact on insurance purchasing behavior. Health Affairs (Millwood), 24(2), 483–490.CrossRefGoogle Scholar
  23. 23.
    Naj, A. C., Jun, G., Beecham, G. W., Wang, L. S., Vardarajan, B. N., Buros, J., et al. (2011). Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer’s disease. Nature Genetics, 43(5), 436–441.PubMedCrossRefPubMedCentralGoogle Scholar
  24. 24.
    Hollingworth, P., Harold, D., Sims, R., Gerrish, A., Lambert, J. C., Carrasquillo, M. M., et al. (2011). Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease. Nature Genetics, 43(5), 429–435.PubMedCrossRefPubMedCentralGoogle Scholar
  25. 25.
    Seshadri, S., Fitzpatrick, A. L., Ikram, M. A., DeStefano, A. L., Gudnason, V., Boada, M., et al. (2010). Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA, 303(18), 1832–1840.PubMedCrossRefPubMedCentralGoogle Scholar
  26. 26.
    Reitz, C., Jun, G., Naj, A., Rajbhandary, R., Vardarajan, B. N., Wang, L. S., et al. (2013). Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4, and the risk of late-onset Alzheimer disease in African Americans. JAMA, 309(14), 1483–1492.PubMedCrossRefPubMedCentralGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Taub Institute, Columbia University Medical CenterNew YorkUSA

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