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Genetics of Alzheimer’s Disease: A Large Kindred with Apparent Mendelian Transmission: Possible Implications for a Linkage Study

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New Concepts in Alzheimer’s Disease

Abstract

The introduction of genetics into a collection of contributions dedicated to new concepts in Alzheimer’s disease (AD) may seem a paradox at many levels. First, the importance of genetic factors in the determination of AD is not a new concept, since it has been surmised almost from the first description of the disease. It was indicated by a number of reports (not reviewed in this present paper) of relatively small familial groups in which a few cases of AD were clustered. Second, with therapy at the legitimate foreground of our concerns, the genetic code (as a symbol of fixed fate impervious to medical influence) would, at least until recent times, have seemed a barrier to any practical use of genetic studies. Third, the Parkinson paradigm and the ensuing focus on neurotransmitters, and hence on therapy aimed at the mechanisms, as distinct from the causation, of disease, has directed much of the recent AD research effort towards neuropharmacology.

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References

  • Bayes, T. (1763). Essay toward solving a problem in the doctrine of chances. Phil Trans. (London), in Biometrika, 45, 293–315 (1958).

    Article  Google Scholar 

  • Bertrand, I., and Koffas, D. (1946). Cas d’idiotie mongolienne adulte avec nombreuses plaques séniles et concrétions calcaires pallidales. Rev. neurol (Paris), 78, 338–45.

    Google Scholar 

  • Breitner, J. C. S., and Folstein, M. F. (1984). Familial nature of Alzheimer’s disease. N. Engl. J. Med., 14, 63–80.

    CAS  Google Scholar 

  • Bruce, M. E., and Dickinson, A. G. (1985). Genetic control of amyloid plaque production and incubation period in Scrapie-infected mice. J. Neuropath. Exp. Neurol., 44, 285–94.

    Article  CAS  PubMed  Google Scholar 

  • Bruni, A. C. (1984). Studio di una popolazione afetta da una malattia di Alzheimer Familiare. Tesi di Specializzazione, Università degli Studi di Napoli, pp. 131.

    Google Scholar 

  • Chase, G. A., Folstein, M. F., Breitner, J. C. S., Beaty, T. H., and Self, S. G. (1983). The use of life tables and survival analysis in testing genetic hypotheses, with an application to Alzheimer’s disease. Am. J. of Epidemiology, 117, 590–7.

    CAS  Google Scholar 

  • Constantinidis, J., and Ajuriaguerra, J. de (1965). L’incidence familiale des plaques séniles. Confin. Psychiat., 8, 130–7.

    CAS  PubMed  Google Scholar 

  • Constantinidis, J., Garrone, G., Tissot, R., and Ajuriaguerra, J. de (1965). L’incidence familiale des altérations neurofibrillaires corticales d’Alzheimer. Psychiat. Neurol. (Basel), 150, 237–47.

    Article  Google Scholar 

  • Cook, R. H., Ward, B. E., and Austin, J. H. (1979). Studies in aging of the brain. IV. Familial Alzheimer’s disease: relation to transmissible dementia, aneuploidy, and microtubular defects. Neurology, 29, 1402–12.

    Article  CAS  PubMed  Google Scholar 

  • Crow, J. F and Mange, A. P. (1965). Measurement of inbreeding from the frequency of marria between persons of the same surname. Eugenics Quarterly, 12, 199–203.

    Article  CAS  PubMed  Google Scholar 

  • Dickinson, A. G., and Miekle, V. M. H. (1971). Host-genotype and agent effects in scrapie incubation: Change in allelic interaction with different strains of agent. Mol. Gen. Genet., 112, 73–9.

    Article  CAS  PubMed  Google Scholar 

  • Feldman, R. G., Chandler, K. A., Levy, L. L., and Glaser, G. H. (1963). Familial Alzheimer’s disease. Neurology, 13, 1402–12.

    Article  Google Scholar 

  • Foncin, J. F., and Supino-Viterbo, V. (1973). Maladie d’Alzheimer familiale: histopathologie ultrastructurale, étude généalogique. Excerpta Medica, International Congress Series, 296.

    Google Scholar 

  • Foncin, J. F., and Supino-Viterbo, V. (1983). La maladie d’Alzheimer et ses formes familiales. Leurs rapports avec les encéphalopathies spongiformes transmissibles. In Court, L., and Cathala, F. (eds.), Virus non conventionnels et affections du système nerveux central. Masson & Cie, Paris, pp. 248–58.

    Google Scholar 

  • Foncin, J. F., Salmon, D., Supino-Viterbo, V., Feldman, R. G., Macchi, G., Mariotti, P., Scoppetta, C., Caruso, G., and Bruni, A. C. (1985). Démence présénile d’Alzheimer transmise dans une famille étendue. Rev. Neurol. (Paris), 141, 194–202.

    CAS  Google Scholar 

  • Gaches, J., Supino-Viterbo, V., and Foncin, J. F. (1977). Association de maladies d’Alzheimer et de Creutzfeldt-Jakob. Acta Neurol. Belg., 77, 202–12.

    CAS  PubMed  Google Scholar 

  • Gajdusek; D. C. (1984a). Interference with axonal transport of neurofilaments: the underlying mechanism of pathogenesis in Alzheimer’s disease, amyotrophic lateral sclerosis, and many other degenerations of the CNS. The Merrimon Lecture. The School of Medicine, The University of North Carolina at Chapel Hill, 1–14.

    Google Scholar 

  • Gajdusek, D. C. (1984b). Environmental factors provoking physiological changes which induce motor neurone disease and early neuronal ageing in high incidence foci in the Western Pacific. In Clifford Rose, F. (ed.), Research Progress in Motor Neuron Disease. Pitman, London, 44–69.

    Google Scholar 

  • Goudsmit, J., White, B. J., Weitkamp, L. R., Keats, B. J. B., Morrow, C. H., and Gajdusek, D. C. (1981). Familial Alzheimer’s disease in two kindreds of the same geographic and ethnic origin. A clinical and genetic study. J. Neurol. Sci., 49, 79–89.

    Article  CAS  PubMed  Google Scholar 

  • Goudsmit, J., Morrow, C. H., Asher, D. M., Yanaghiara, R. T., Masters, C. L., Gibbs Jr, C. J., and Gajdusek, D. C. (1980). Evidence for and against the transmissibility of Alzheimer’s disease. Neurology, 30, 945–50.

    Article  CAS  PubMed  Google Scholar 

  • Gusella, J. F., Tanzi, R. E., Anderson, M. A., Hobbs, W., Gibbons, K., Raschtchian, R., Gilliam, T. C., Wallace, M. R., Wexler, N. S., and Conneally, P. M. (1984). DNA markers for nervous system diseases. Science, 225, 1320–5.

    Article  CAS  PubMed  Google Scholar 

  • Gusella, J. F., Wexler, N. S., Conneally, P. M., Naylor, S. L., Anderson, M. A., Tanzi, R. E., Watkins, P. C., Ottina, K., Wallace, M. R., Sakaguchi, A. Y., Young, A. B., Shoulson, I., Bonilla, E., and Martin, J. B. (1983). A polymorphic DNA marker genetically linked to Huntington’s disease. Nature, 306, 234–8.

    Article  CAS  PubMed  Google Scholar 

  • Harper, P. S. (1977). Mendelian inheritance or transmissible agent? The lesson of Kuru and the Australia antigen. J. Med. Genetics, 14, 389–98.

    Article  CAS  Google Scholar 

  • Heston, L. L., and Mastri, A. R. (1977). The genetics of Alzheimer’s disease. Associations with hematologic malignancy and Down’s syndrome. Arch. Gen. Psychiatry, 34, 976–81.

    Article  CAS  PubMed  Google Scholar 

  • Jacob, H. (1970). Muscular twitching in Alzheimer’s disease. In Wostenholme and O’Connor (eds.), Alzheimer’s Disease and Related Conditions. Churchill, London, 75–89.

    Google Scholar 

  • Kimura, M., and Ohta, T. (1971). Theoretical Aspects of Population Genetics. Princeton University Press, Princeton, New Jersey, p. 118.

    Google Scholar 

  • Krigman, M. R., Feldman, R. G., and Bensch, K. (1965). Alzheimer’s presenile dementia. A histoehemical and electron microscopic study. Lab. Invest., 14, 381–96.

    CAS  PubMed  Google Scholar 

  • Lalouel, J. M., and Morton, N. E. (1981). Complex segregation analysis with pointers. Human Hered., 31, 312–21.

    Article  CAS  Google Scholar 

  • Landre, M. F., Valat, M. T., and Jutier, P. (1972). Reconnaissance automatique des liens de parenté. Tracé automatique d’arbre généalogique. M.I.S., 10, SIMEP, Villeurbanne.

    Google Scholar 

  • Lott, I. T. (1982). Down’s syndrome, aging and Alzheimer’s disease: a clinical review. In Sinex, E. M., and Merril, C. R. (eds.), Alzheimer’s Disease, Down’s Syndrome and Aging. Annals NY Academy of Sciences, 396, 15–27.

    Google Scholar 

  • Malecot, G. (1948). Les Mathématiques de l’Hérédité. Masson, Paris.

    Google Scholar 

  • Masters, C. L., Gajdusek, D. C., and Gibbs Jr, C. J. (1981). The familial occurrence of Creutzfeldt-Jakob disease and Alzheimer’s disease. Brain, 104, 535–58.

    Article  CAS  PubMed  Google Scholar 

  • Merz, P. A., Rohwer, R. G., Kascsak, R., Wisniewski, H. M., Sommerville, R. A., Gibbs, C. J., and Gajdusek, D. C. (1984). An infection specific particle from the unconventional slow virus diseases. Science, 225, 437–40.

    Article  CAS  PubMed  Google Scholar 

  • Merz, P. A., Sommerville, R. A., and Wisniewsky, H. M. (1983). Abnormal fibrils in scrapie and senile dementia of the Alzheimer type. In Court, L. and Cathala, F. (eds.), Virus non conventionnels et affections du système nerveux central. Masson & Cie, Paris, pp. 259–81.

    Google Scholar 

  • Nee, L. E., Polinsky, R. J., Eldridge, R., Weingartner, J., Smallberg, S., and Ebert, M. (1983). A family with histologically confirmed Alzheimer’s disease. Arch. Neurol., 40, 203–8.

    Article  CAS  PubMed  Google Scholar 

  • Sjogren, T., Sjogren, H., and Lindgren, H. (1952). A genetic study of Morbus Alzheimer and Morbus Pick. Acta Psychiat. Scand., 82, Suppl. 9.

    Google Scholar 

  • Terry, R. D. (1970). Discussion. In Wostenholme and O’Connor (eds.), Alzheimer’s Disease and Related Conditions. Churchill, London, 91.

    Google Scholar 

  • Van Bogaert, L., Maere, M., and de Smedt, E. (1940). Sur les formes familiales précoces de la maladie d’Alzheimer. Monatschr. Psychiat. Neurol., 102, 247–301.

    Google Scholar 

  • Wexler, N. S., Conneally, P. M., Houseman, D., and Gusella, J. F. (1985). A DNA polymorphism for Huntington’s disease marks the future. Arch. Neurol., 42, 20–4.

    Article  CAS  PubMed  Google Scholar 

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Foncin, J.F., Salmon, D., Bruni, A.C. (1986). Genetics of Alzheimer’s Disease: A Large Kindred with Apparent Mendelian Transmission: Possible Implications for a Linkage Study. In: Briley, M., Kato, A., Weber, M. (eds) New Concepts in Alzheimer’s Disease. Palgrave, London. https://doi.org/10.1007/978-1-349-08639-9_18

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  • DOI: https://doi.org/10.1007/978-1-349-08639-9_18

  • Publisher Name: Palgrave, London

  • Print ISBN: 978-1-349-08641-2

  • Online ISBN: 978-1-349-08639-9

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