Genetics and genetic counseling: Recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease

Current Neurology and Neuroscience Reports

Volumn 4, Issue 5, 2004, Pages 351-357

  Williamson, Jennifer ^a   LaRusse, Susan ^a  

^a Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H Sergievsky Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALZHEIMER DISEASE; CASE REPORT; CLINICAL GENETICS; CREUTZFELDT JAKOB DISEASE; DEGENERATIVE DISEASE; FAMILY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC COUNSELING; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; PREDICTION; REVIEW;

EID: 5444256182     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-004-0081-x     Document Type: Review

References (49)

1. Baty B, Venne V, McDonald J, et al.: BRCA1 Testing: Genetic counseling protocol development and counseling issues. J Genet Counseling 1997, 6: 223-244.
2. Lannfelt L, Axelman K, Lilius L, Basun H: Genetic counseling in a Swedish Alzheimer family with amyloid precursor protein mutation. Am J Hum Genet 1995, 56: 332-335.
3. Tabrizi SJ, Elliot CL, Weissman C: Ethical issues in human prion diseases. Br Med Bull 2003, 66: 305-316.
4. International Huntington Association (IHA) and World Federation of Neurology (WFN): Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 1994, 44: 1533-1536.
5. Small GW, Rabins PV, Barry PP, et al.: Diagnosis and treatment of Alzheimer disease and related disorders. Consensus statement of the American Association for Geriatric Psychiatry, the Alzheimer's Association, and the American Geriatrics Society. JAMA 1997, 278: 1363-1371.
6. Bird TD, Sumi SM, Nemens EJ, et al.: Phenotypic heterogeneity in familial Alzheimer's disease: a study of 24 kindreds. Ann Neurol 1989, 25: 12-25.
7. St. George-Hyslop PH: Molecular genetics of Alzheimer's disease. Biol Psychiatry 2000, 47: 183-199.
8. 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.
9. Farrer LA, Cupples LA, Haines JL, et al.: Effects of age, sex and ethnicity on the association between apolipoprotein E genotype and Alzheimer's disease: a meta-analysis. JAMA 1997, 278: 1349-1356.
10. Mayeux R, Stern Y, Ottman R, et al.: The apolipoprotein epsilon 4 allele in patients with Alzheimer's disease. Ann Neurol 1993, 34: 752-754.
11. Pericak-Vance MA, Bass MP, Yamaoka LH, et al.: Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. JAMA 1997, 278: 1237-1241.
12. Ertekin-Taner N, Graff-Radford N, Younkin LH, et al.: Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees. Science 2000, 290: 2303-2304.
13. Myers A, Holmans P, Marshall H, et al.: Susceptibility locus for Alzheimer's disease on chromosome 10. Science 2000, 290: 2304-2305.
14. Pericak-Vance MA, Grubber J, Bailey LR, et al.: Identification of novel genes in late-onset Alzheimer's disease. Exp Gerontol 2000, 35: 1343-1352.
15. Rocchi A, Pettegrini S, Siciliano G, Murri L: Causative and susceptibility genes for Alzheimer's disease: a review. Brain Res Bull 2003, 61: 1-24.
16. Rogaeva EA, Fafel KC, Song YQ, et al.: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 2001, 57: 621-625.
17. Mayeux R, Saunders AM, Shea S, et al.: Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease. Alzheimer's Disease Centers Consortium on Apolipoprotein E and Alzheimer's Disease. N Engl J Med 1998, 338: 506-511.
18. McConnell LM, Koenig BA, Greely HT, Raffin TA: Genetic testing and Alzheimer disease: recommendations of the Stanford Programs in Genomics, Ethics, and Society. Genet Test 1999, 3: 3-12.
19. American College of Medical Genetics/American Society of Human Genetics Working Group on ApoE and Alzheimer disease: Statement on use of apolipoprotein E testing for Alzheimer disease. JAMA 1995, 274: 1627-1629.
20. Snowden JS, Neary D, Mann DM: Frontotemporal dementia. Br J Psychiatry 2002, 180: 140-143.
21. Chow TW, Miller BL, Hayashi VN, et al.: Inheritance of frontotemporal dementia. Arch Neurology 1999, 56: 817-822.
22. Poorkaj P, Grossman M, Stinbart E, et al.: Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol 2001, 58: 383-387.
23. Alzheimer Research Forum: http://www.alzforum.org/. Accessed April 2004.
24. Gene Tests: http:/www.genetests.org. Accessed April 2004.
25. Mann DM, McDonagh A, Snowden JS, et al.: Molecular classification of the dementias. Lancet 2000, 355: 626.
26. Brown J, Ashworth A, Gydesen S, et al.: Familial non-specific dementia maps to chromosome 3. Hum Mol Genet 1995, 4: 1625-1628.
27. Hosler BA, Siddique T, Sapp PC, et al.: Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA 2000, 284: 1664-1669.
28. Gambetti P, Kong Q, Zou W, et al.: Sporadic and familial CJD: classification and characterization. Br Med Bull 2003, 66: 213-239.
29. Wadsworth JD, Hill AF, Beck JA, Collinge J: Molecular and clinical classification of human prion disease. Br Med Bull 2003, 66: 241-254.
30. Gambetti P, Parchi P, Petersen RB, et al.: Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features. Brain Pathol 1995, 5: 43-51.
31. Ghetti B, Piccardo P, Frangione B, et al.: Prion protein amyloidosis. Brain Pathol 1996, 6: 127-145.
32. Greicius MD, Geschwind MD, Miller BL: Presenile dementia syndromes: an update on taxonomy and diagnosis. J Neurol Neurosurg Psychiatry 2002, 72: 691-700.
33. Integrating genetic services into clinical care. In Genetic Testing and Screening in the Age of Genomic Medicine. Albany: New York State Fask Force on Life and the Law; 2000: 345-386.
34. Evers-Kiebooms G, Welkenhuysen M, Claes E, et al.: The psychological complexity of predictive testing for late onset neurogenetic diseases and hereditary cancers: implications for multidisciplinary counseling and for genetic education. Social Sci Med 2000, 51: 831-841.
35. McKinnon WC, Baty BJ, Bennett RL, et al.: Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society of Genetic Counselors. JAMA 1997, 278: 1217-1220.
36. Goldman JS, Miller BL, Safar J, et al.: When sporadic disease is not sporadic - the potential for a genetic etiology. Arch Neurol 2004, 61: 213-216.
37. Alzheimer Association: http:/www.alz.org/. Accessed April 2004.
38. Marteau T, Lerman C: Genetic risk and behavioural change. BMJ 2001, 332: 1056-1059.
39. Lloyd FJ, Reyna VF, Whalen P: Accuracy and ambiguity in counseling patients about genetic risk. Arch Inter Med 2001, 161: 2411-2413.
40. Hofman KJ, Tambor ES, Chase GA, et al.: Physicians' knowledge of genetics and genetic tests. Acad Med 1993, 68: 625-632.
41. Sankar P: Genetic privacy. Annu Rev Med 2003, 54: 393-407.
42. Hall MA: Genetic Discrimination. Research Triangle Park, NC. North Carolina Genomics and Bioinformatics Consortium; 2003:1-4.
43. Health Insurance Portability and Accountability Act. Public Law 104-191, US Statutes at Large 110, 1996.
44. Lerman C, Croyle VF, Tercyak KP, Hamann H: Genetic testing: psychological aspects and implications. J Consulting Clin Psychol 2002, 70: 784-797.
45. Steinbart EJ, Smith CO, Poorkaj P, Bird TD: Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. Arch Neurol 2001, 58: 1828-1831.
46. Sobel S, Cowan CB: Ambiguous loss and disenfranchised grief: the impact of DNA predictive testing on the family as a system. Family Process 2003, 42: 47-57.
47. Quaid KA, Murrell JR, Hake AM, et al.: Presymptomatic genetic testing with an APP mutation in early onset Alzheimer disease: a descriptive study of sibship dynamics. J Genet Counsel 2000, 9: 327-345.
48. Verlinsky Y, Rechitsky S, Verlinsky O, et al.: Preimplantation diagnosis for early-onset Alzheimer disease caused by V717L mutation. JAMA 2002, 287: 1018-1021.
49. Roberts JS, LaRusse SA, Katzen H, et al.: Reasons for seeking genetic susceptibility testing among first-degree relatives of people with Alzheimer disease. Alzheimer Dis Assoc Disord 2003, 17: 86-93.