Hostname: page-component-cd9895bd7-dzt6s Total loading time: 0 Render date: 2024-12-26T05:15:03.085Z Has data issue: false hasContentIssue false
  • English
  • Français

Genetic Counselling and Genetic Screening for Alzheimer’s Disease and Other Dementias

Published online by Cambridge University Press:  02 December 2014

A. Dessa Sadovnick
A. Dessa Sadovnick*
Affiliation:
Department of Medical Genetics, University of British Columbia, Vancouver, BC Canada
Rights & Permissions [Opens in a new window]

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Genetic and nongenetic factors have been identified to have roles in the etiology of dementia. Etiologic heterogeneity and genetic heterogeneity are recognized, especially for Alzheimer’s disease which is the most common form of dementia. Asymptomatic individuals are increasingly requesting genetic services such as genetic counselling, predictive testing and screening for genetic risk factors. This paper provides an overview of the current knowledge about genetic counselling and genetic screening for dementia as well as guidelines for the physician.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 28 , Supplement S1: Canadian Consensus Conference on Dementia , May 2001 , pp. S52 - S55
Copyright
Copyright © The Canadian Journal of Neurological 2001

References

REFERENCES

1. Canadian Study of Health and Aging (CSHA) Working Group. CSHA: The incidence of dementia in Canada. Neurology 2000; 55:66–73.CrossRefGoogle Scholar
2. Rosenberg, RN. The molecular and genetic basis of AD: The end of the beginning. The 2000 Wartenberg lecture. Neurology 2000; 54:2045–2054.Google Scholar
3. Froelich, S, Basun, H, Forsell, C, et al. Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12–21. Am J Med Genet (Neuropsychiatric Gen) 1997; 74:380–385.Google Scholar
4. Arima, K, Kowalska, A, Hasegawa, M, et al. Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. Neurology 2000; 54:1787–1795.Google Scholar
5. Corder, EH, Saunders, AM, Strittmatter, WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late-onset families. Science 1993; 261:921–923.CrossRefGoogle ScholarPubMed
6. Saunders, AM, Strittmatter, WJ, Schmechel, D, et al. Association of apolipoprotein E allele E4 with late-onset familial and sporadic Alzheimer’s disease. Neurology 1993; 43:1467–1472.CrossRefGoogle Scholar
7. Poirier, J, Davignon, J, Bouthillier, D, et al. Apolipoprotein E poly-morphism and Alzheimer’s disease. Lancet 1993; 342:697–699.CrossRefGoogle Scholar
8. Grimaldi, LM, Casadei, VM, Ferri, C, et al. Association of early-onset Alzheimer’s disease with an interleukin-1 α gene polymorphism. Neurology 2000; 47:361–365.Google Scholar
9. Nicoll, JA, Mrak, RE, Graham, DI, et al. Association of interleukin-1 gene polymorphisms with Alzheimer’s disease. Ann Neurol 2000; 47:365–368.3.0.CO;2-G>CrossRefGoogle ScholarPubMed
10. Ghanbari, H, Ghanbari, K, Beheshti, I, et al. Biochemical assay for AD7C-NTPin urine as an Alzheimer’s disease marker. J Clin Lab Anal 1998, 12:285–288.3.0.CO;2-5>CrossRefGoogle ScholarPubMed
11. Jeffries, W, Feldman, H, Nurminen, J, et al. Serum p97 as a screening test for Alzheimer’s disease. Neurobiol Aging 1998; 19(4s):S82.Google Scholar
12. The Ronald and Nancy Reagan Research Institute of the Alzheimer’s Association and the National Institute on Aging Working Group. Consensus report of the working group on: “Molecular and biochemical markers of Alzheimer’s disease”. Neurobiol Aging 1998; 19:109–116.CrossRefGoogle Scholar
13. Fraser, FC. Genetic counselling. Am J Hum Genet 1974; 26:636–659.Google Scholar
14. Claus, EB, Schildkraut, JM, Thompson, WD, Risch, NJ. The genetic attributable risk of breast and ovarian cancer. Cancer 1996; 77:2318–2324.Google Scholar
15. Wiggins, S, Whyte, P, Huggins, M, et al. The psychological consequences of predictive testing for Huntington’s disease. N Engl J Med 1992; 327:1401–1405.CrossRefGoogle ScholarPubMed
16. ASHG Statement. Professional disclosure of familial genetic information. Am J Hum Genet 1998; 62:474–483.Google Scholar
17. Schellenberg, GD, Payami, H, Wijsman, E, et al. Chromosome 14 and late-onset familial Alzheimer’s disease (FAD). Am J Hum Genet 1994; 53:619–628.Google Scholar
18. Pericak-Vance, MA, Grubber, J, Bailey, LR, et al. Genomic screen of 739 sibpairs with late-onset Alzheimer’s disease. Am J Hum Genet 2000; 67(4):48.Google Scholar
19. Folstein, MF, Folstein, SE, McHugh, PR. “Mini-mental-state”: A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975; 12:189–198.Google Scholar
20. Clark, CM, Sheppard, L, Fillenbaum, GG, et al. Variability in annual Mini-Mental State Examination score in patients with probable Alzheimer’s disease. Arch Neurol 1999; 56:857–862.Google Scholar
21. Hirst, C, Sadovnick, AD, Yee, IML. Familial risks for Alzheimer’s disease: data from an Alzheimer’s clinic population. Genetic Epidemiol 1994; 11:365–374.Google Scholar
22. Bird, TD. Apolipoprotein genotyping in the diagnosis of Alzheimer’s disease: a cautionary view. Ann Neurol 1995; 38:2–4.Google Scholar
23. Roses, AD. Apolipoprotein E genotyping in the differential diagnosis, not prediction, of Alzheimer’s disease. Ann Neurol 1995; 38:6–14.Google Scholar
24. American College of Medical Genetics/American Society of Human Genetics Working Group on ApoE and Alzheimer’s Disease. Statement on use of Apolipoprotein E testing for Alzheimer’s disease. J Am Med Assoc 1995; 274:1627–1629.CrossRefGoogle Scholar
25. Blacker, D, Haines, JL, Rodes, L, et al. ApoE-4 and age at onset of Alzheimer’s disease: The NIMH Genetics Initiative. Neurology 1997; 48:139–147.CrossRefGoogle ScholarPubMed
26. National Institute on Aging/Alzheimer’s Association Working Group. Apolipoprotein E genotyping in Alzheimer’s disease. Lancet 1996; 347:1091–1095.CrossRefGoogle Scholar
27. Post, SG, Whitehouse, PJ, Binstock, RH, et al. Consensus statement: the clinical introduction of genetic testing for Alzheimer’s disease. JAMA 1997; 277:832–840.CrossRefGoogle Scholar
28. Kalaria, RN, Giacobini, E. Meeting Report: The Fifth International Conference on Alzheimer’s Disease and related Disorders. Alzheimer Dis Assoc Disord 1997; 11:113–119.CrossRefGoogle ScholarPubMed
29. Blacker, N. New insights into genetic aspects of Alzheimer’s disease. Does genetic information make a difference in clinical practice? Postgrad Med 2000; 108:119–122.CrossRefGoogle ScholarPubMed
30. Patterson, CJS, Gauthier, S, Bergman, H, et al. The recognition and management of dementing disorders: conclusions from the Canadian Consensus Conference on Dementia. Can Med Assoc J 1999; 160 (supplement 12).Google Scholar
31. Sadovnick, AD. Genetic counselling in dementia. In: Qizilbash, N, Schneider, L, Chui, H, Tariot, P, Brodaty, H, Kaye, J, Erkinjuntti, T eds. Evidence-Based Dementia: A Practical Guide to Diagnosis and Management (with internet updates). Oxford: Blackwells. In press, 2001.Google Scholar