Although genetic testing is available for some degenerative diseases, in most types of dementia, both genetic and environmental factors are involved. Overall, dementing diseases can be either sporadic or inherited, and in general, the earlier the onset, the more likely a disease is to be inherited. Before genetic testing is performed, the ethical issues, such as the effect the tests might have on asymptomatic children, should be considered. The ethical use of DNA samples in research is another genetic testing issue to be considered.
Seshadri S, Drachman DA, Lippa CF: Apolipoprotein E epsilon 4 allele and the lifetime risk of Alzheimer's disease. What physicians know, and what they should know. Arch Neurol. 1995; 52: 1074-1079.
2.
Takashima A, Murayama M, Murayama O, et al.: Presenilin 1 associates with glycogen synthase kinase-3beta and its substrate tau. Proc Natl Acad Sci USA.1998; 95: 9637-9641.
3.
Verkkoniemi A, Kalimo H, Paetau A, et al.: Variant Alzheimer disease with spastic paraparesis: Neuropathological phenotype. J Neuropathol Exp Neurol.2001; 60: 483-492.
4.
Gustafson D, Rothenberg E, Blennow K, et al.: An 18-year followup of overweight and risk of Alzheimer disease. Arch Intern Med. 2003; 163: 1524-1528.
5.
Jick H, Zornberg GL, Jick SS, et al.: Statins and the risk of dementia. Lancet. 2000; 356: 1627-1631.
6.
Plassman BL, Havlik RJ, Steffens DC, et al.: Documented head injury in early adulthood and risk of Alzheimer's disease and other dementias. Neurology.2000; 55: 1158-1166.
7.
Seshadri S, Beiser A, Selhub J, et al.: Plasma homocysteine as a risk factor for dementia and Alzheimer's disease. N Engl J Med. 2002; 346: 476-483.
8.
Shumaker SA, Legault C, Thal L, et al.: Estrogen plus progestin and the incidence of dementia and mild cognitive impairment in postmenopausal women: the Women's Health Initiative Memory Study: a randomized controlled trial. JAMA. 2003; 289: 2651-2662.
9.
Tang MX, Jacobs D, Stern Y, et al.: Effect of oestrogen during menopause on risk and age at onset of Alzheimer's disease. Lancet. 1996; 348: 429-432.
10.
Verghese J, Lipton RB, Katz MJ, et al.: Leisure activities and the risk of dementia in the elderly. N Engl J Med. 2003; 348: 2508-2516.
11.
Wilson RS, Bennett DA, Bienias JL, et al.: Cognitive activity and incident AD in a population-based sample of older persons. Neurology.2002; 59: 1910-1914.
12.
Hutton M, Lendon CL, Rizzu P, et al.: Association of missense and 5’-splice-site mutations in tau with the inherited dementia FTDP-17. Nature. 1998; 393: 702-705.
13.
Verpillat P, Camuzat A, Hannequin D, et al.: Association between the extended tau haplotype and frontotemporal dementia. Arch Neurol. 2002; 59: 935-939.
14.
Zhukareva V, Vogelsberg-Ragaglia V, Van Deerlin VM, et al.: Loss of brain tau defines novel sporadic and familial tauopathies with frontotemporal dementia. Ann Neurol.2001; 49:165-175.
15.
Polymeropoulos MH, Lavedan C, Leroy E, et al.: Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997; 276: 2045-2047.
16.
Lippa CF, Fujiwara H, Mann DM, et al.: Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. Am J Pathol. 1998; 153: 1365-1370.
17.
Lippa CF, Schmidt ML, Lee VM, et al.: Antibodies to alpha-synuclein detect Lewy bodies in many Down's syndrome brains with Alzheimer's disease. Ann Neurol. 1999; 45: 353-357.
18.
Popescu A, Lippa CF: Lewy bodies in the amygdala: Alpha-synuclein expression is increased in specific neurodegenerative diseases [abstract]. Neurology. 2001; 177-178.
19.
Cutler SJ, Hodgson LG: To test or not to test: Interest in genetic testing for Alzheimer's disease among middle-aged adults. Am J Alzheimers Dis Demen. 2003; 18(1): 9-20.
20.
Marcheco B, Bertoli AM, Rojas I, et al.: Attitudes and knowledge about presymptomatic genetic testing among individuals at high risk for familial, early-onset Alzheimer's disease. Genet Test. 2003 Spring; 7(1): 45-47.
21.
Steinbart EJ, Smith CO, Poorkaj P, et al.: Impact of DNA Testing for Early-Onset Familial Alzheimer Disease and Frontotemporal Dementia. Arch Neurol. 2001: 58: 1828-1831.
22.
Almqvist EW, Bloch M, Brinkman R, et al.: A Worldwide Assessment of the Frequency of Suicide, Suicide Attempts, or Psychiatric Hospitalization after Predictive Testing for Huntington Disease. Am J Hum Genet. 1999; 64: 1293-1303.
23.
Meiser B, Dunn S: Psychological impact of genetic testing for Huntington's disease: an update of the literature. J Neurol Neurosurg Psychiatry. 2000; 69: 574-578.
24.
Klein C, Friedman J, Bressman S, et al.: Genetic testing for earlyonset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet Test.1999; 3(4):323-328.
25.
Florencio PS: Genetics, parenting, and children's rights in the twenty-first century. McGill Law J.2000; 45(2): 527-158.
26.
Nee LE. Matching Old Banked DNA with Current Knowledge: A Present Day Challenge [Abstract], ELSI Conference, NHGRI, National Institutes of Health, Bethesda, Maryland, 2001.
27.
Edwards RG, Angastiniotis M, Antinori S: Ethics of preimplantation diagnosis: recordings from Fourth International Symposium on Preimplantation Genetics. Reprod Biomed Online. 2003; 6(2) 170-180.
28.
Nelson LJ: Preimplantation diagnosis. Clin Perinatol. 2003; 1: 67-80.
29.
Rechitsky S, Verlinsky O, Kuliev A, et al.: Preimplantation genetic diagnosis for familial dysautonomia. Reprod Biomed Online. 2003; 6(4): 488-493.
30.
Flis-Treves M, Achour-Frydman N, Kerbrat V, et al.: Preimplantation genetic diagnosis and its psychological effects. J Gynecol Obstet Biol Reprod (Paris).2003; 32(2): 127-131.
