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Transmissible and non-transmissible neurodegenerative disease: similarities in age of onset and genetics in relation to aetiology

Published online by Cambridge University Press:  09 July 2009

R. M. Ridley ,
H. F. Baker  and
T. J. Crow
R. M. Ridley*
Affiliation:
Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex
H. F. Baker
Affiliation:
Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex
T. J. Crow
Affiliation:
Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex
*
1Address for correspondence: Dr R. M. Ridley, Division of Psychiatry, Clinical Research Centre, Watford Road, Harrow, Middlesex HA1 3UJ.
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Synopsis

In only a few cases is transmissible dementia known to have been acquired by infection from a source outside the individual; the remaining cases can be classified as sporadic, loosely familial, or autosomal dominant. Each group has a characteristic mean age of onset. A range of neurodegenerative diseases (including Alzheimer-type dementia and amyotrophic lateral sclerosis) can also be classified in this way, with similar characteristic mean ages of onset. The emergence of these diseases in later middle age, and the interdependence of age of onset and the type of familial occurrence suggest that these pathological processes are related to those genetic mechanisms which determine senescence. It is argued that the majority of cases of transmissible dementia arise, not from infection, but from the expression of endogenous virogene sequences as part of the aging processes.

Type
Research Article
Information
Psychological Medicine , Volume 16 , Issue 1 , February 1986 , pp. 199 - 207
Copyright
Copyright © Cambridge University Press 1986

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References

Abdel Nabi, S. D. & Hassanein, M. (1965). Neurospsychiatric manifestations of chronic manganese poisoning. Journal of Neurology, Neurosurgery and Psychiatry 28, 282–288.Google Scholar
Allan, W. (1926). Inheritance of shaking palsy. Archives of Internal Medicine 60, 424–436.CrossRefGoogle Scholar
Baker, H. F., Ridley, R. M. & Crow, T. J. (1985). Experimental transmission of an autosomal dominant spongiform encephalopathy: does the infectious agent originate in the human genome? British Medical Journal 291, 299–302.CrossRefGoogle ScholarPubMed
Bernoulli, C., Siegfried, J., Baumgartner, G., Regli, F., Rabinovitz, T., Gajdusek, D. C. & Gibbs, C. J. (1977). Danger of accidental person to person transmission of Creutzfeldt–Jakob disease by surgery. Lancet i, 478–479.CrossRefGoogle Scholar
Bird, E. D., Chiappa, S. A. & Fink, G. (1976). Brain immunoreactive gonadotrophin-releasing hormone in Huntington's chorea and in non-choreic subjects. Nature 260, 536–538.CrossRefGoogle ScholarPubMed
Bobowick, A. R., Brody, J. A., Mâtthews, M. R., Roos, R. & Gajdusek, D. C. (1973). Creutzfeldt–Jakob disease: a case–control study. American Journal of Epidemiology 98, 381–394.CrossRefGoogle ScholarPubMed
Boehnke, M., Conneally, P. M. & Lange, K. (1983). Two models for a maternal factor in the inheritance of Huntington Disease. American Journal of Human Genetics 35, 845–860.Google ScholarPubMed
Brait, K., Fahn, S. & Schwarz, G. A. (1973). Sporadic and familial Parkinsonism and motor neuron disease. Neurology 23, 990–1002.CrossRefGoogle ScholarPubMed
Brotherston, J. G., Renwich, C. C., Stamp, J. T., Zlotnik, I. & Pattison, I. H. (1968). Spread of scrapie by contact to goats and sheep. Journal of Comparative Pathology 78, 9–17.CrossRefGoogle ScholarPubMed
Brown, P. (1980). An epidemiologic critique of Creutzfeldt–Jakob disease. Epidemiological Reviews 2, 113–135.CrossRefGoogle ScholarPubMed
Brown, P., Cathala, F. & Sadowsky, D. (1983) Correlation between population density and the frequency of Creutzfeldt–Jakob disease in France. Journal of Neurological Sciences 60, 169–176.CrossRefGoogle ScholarPubMed
Carter, C. O. (1961). The inheritance of congenital pyloric stenosis. British Medical Bulletin 17, 251–254.CrossRefGoogle ScholarPubMed
Carter, C. O. (1969), Genetics of common disorders. British Medical Bulletin 25, 52–57.CrossRefGoogle ScholarPubMed
Corsellis, J. A. N., Bruton, C. J. & Freeman-Browne, D. (1973). The aftermath of boxing. Psychological Medicine 3, 270–303.CrossRefGoogle ScholarPubMed
Cuillé, J. & Chelle, P. L. (1936). La maladie dite tremblante du mouton: est-elle inoculable? Comptes Rendus, Académie des Sciences (Paris) 203, 1552–1554.Google Scholar
Currier, R. D., Jackson, J. F. & Meydrech, E. F. (1982). Progression rate and age of onset are related in autosomal dominant neurologic diseases. Neurology 32, 907–909.CrossRefGoogle ScholarPubMed
Dickinson, A. G. & Fraser, H. (1979). An assessment of the genetics of scrapie in sheep and mice. In Slow Transmissible Diseases of the Nervous System, Vol. I (ed Prusiner, S. B. and Hadlow, W. J.), pp. 367–385. Academic Press: New York.Google Scholar
Dickinson, A. G. & Meikle, V. M. H. (1971). Host genotype and agent effects in scrapie incubation: change in allelic interaction with different strains of agent. Molecular and General Genetics 112, 73–79.CrossRefGoogle ScholarPubMed
Duffy, P., Wolf, J., Collins, G., Devoe, A., Streeten, B. & Cowen, F. (1974). Possible person-to-person transmission of Creutzfeldt–Jakob disease. New England Journal of Medicine 290, 692–693.Google ScholarPubMed
Falconer, D. S. (1965). The inheritance of liability to certain diseases, estimated from the incidence among relatives. Annals of Human Genetics 29, 51–75.CrossRefGoogle Scholar
Falconer, D. S. (1967). The inheritance of liability to diseases with variable age of onset, with particular reference to diabetes mellitus. Annals of Human Genetics 31, 1–20.CrossRefGoogle ScholarPubMed
Farrer, L. A., Conneally, P. M. & Yu, P. I. (1984). The natural history of Huntington Disease: possible role of ‘aging genes’. American Journal of Medical Genetics 18, 115–123.CrossRefGoogle ScholarPubMed
Ferber, R. A., Wiesenfeldt, S. L., Roos, R. P., Bobowick, A. R., Gibbs, C. J. & Gajdusek, D. C. (1973). Familial Creutzfeldt–Jakob disease: transmission of the familial disease to primates. Excerpta Medica International Congress Series 319, 358–380.Google Scholar
Gajdusek, D. C. (1977). Unconventional viruses and the origin and disappearance of kuru. Science 197, 943–960.CrossRefGoogle ScholarPubMed
Gajdusek, D. C. (1982). Foci of motor neuron disease in high incidence in isolated populations of East Asia and the Western Pacific. In Human Motor Neuron Diseases (ed. Rowland, L. P.), pp. 363–393. Raven Press: New York.Google Scholar
Gajdusek, D. C., Gibbs, C. J. & Alpers, M. (1966). Experimental transmission of a kuru-like syndrome to chimpanzees. Nature (London) 209, 794–796.CrossRefGoogle ScholarPubMed
Galvez, S., Masters, C. L. & Gajdusek, D. C. (1980). Descriptive epidemiology of Creutzfeldt–Jakob disease in Chile. Archives of Neurology 37, 11–14.CrossRefGoogle ScholarPubMed
Garruto, R. M., Yanagihara, R. & Gajdusek, D. C. (1985). Disappearance of high-incidence amyotrophic lateral sclerosis and Parkinsonism–dementia on Guam. Neurology 35, 193–198.CrossRefGoogle ScholarPubMed
Gibbs, C. J. & Gajdusek, D. C. (1972). Amyotrophic lateral sclerosis, Parkinson's disease and the amyotrophic lateral sclerosis–Parkinsonism–dementia complex on Guam: a review and summary of attempts to demonstrate infection as the aetiology. Journal of Clinical Pathology 25, Suppl. 6, 132–140.CrossRefGoogle Scholar
Gibbs, C. J., Gajdusek, D. C., Asher, D. M., Alpers, M. P., Beck, E., Daniel, P. M. & Matthews, W. B. (1968). Creutzfeldt–Jakob disease (spongiform encephalopathy) transmission to the chimpanzee. Science 161, 388–389.CrossRefGoogle Scholar
Goudsmit, J., Morrow, C. H., Asher, D. M., Yanagihara, R. T., Masters, C. L., Gibbs, C. J. & Gajdusek, D. C. (1980). Evidence for and against the transmissibility of Alzheimer's disease. Neurology 30, 945–950.CrossRefGoogle Scholar
Groen, J. J. & Entz, C. J. (1982). Hereditary Pick's disease. Second re-examination of a large family and discussion of other hereditary cases, with particular reference to electroencephalography and computerised tomography. Brain 105, 443–459.CrossRefGoogle Scholar
Groudine, M., Eisenman, R. & Weintraub, H. (1981). Chromatin structure of endogenous retroviral genes and activation by an inhibitor of DNA methylation. Nature 292, 311–317.CrossRefGoogle ScholarPubMed
Hadlow, W. J. (1959), Scrapie and kuru. Lancet ii, 289–290.CrossRefGoogle Scholar
Haldane, J. B. S. (1940). The relative importance of principal and modifying genes in determining some human diseases. Journal of Genetics 11, 149–157.Google Scholar
Harding, A. E. (1981). Genetic aspects of autosomal dominant late onset cerebellar ataxia. Journal of Medical Genetics 18, 436–441.CrossRefGoogle ScholarPubMed
Heston, L. L., Mastri, A. R. & Anderson, V. E. (1981). Dementia of the Alzheimer type. Archives of General Psychiatry 38, 1085–1090.CrossRefGoogle ScholarPubMed
Hill, I. D. & Peto, R. (1971). Probabilities derived from finite populations. Applied Statistics 20, 99–105.CrossRefGoogle Scholar
Hoehn, M. M. & Yahr, M. D. (1967). Parkinsonism: onset, progression and mortality. Neurology 17, 427–447.CrossRefGoogle ScholarPubMed
Hudson, A. J. (1981). Amyotrophic lateral sclerosis and its association with dementia, Parkinsonism and other neurological disorders: a review. Brain 104, 217–247.CrossRefGoogle ScholarPubMed
Jaenisch, R. (1983). Endogenous retroviruses. Cell 32, 5–6.CrossRefGoogle ScholarPubMed
Jenkins, N. A., Copeland, N G., Taylor, B. A. & Lee, B. K. (1981). Dilute (d) coat colour mutation of DBA/2J mice is associated with the site of integration of an ecotropic MnLV genome. Nature 293, 370–374.CrossRefGoogle ScholarPubMed
Jones, M. B. (1973). Fertility and age of onset in Huntington's chorea. In Advances in Neurology, Vol. 1. (ed. Barbeau, A., Chase, T. N. and Paulson, G. W.), pp. 171–177. Raven Press: New York.Google Scholar
Kahana, E., Alter, M., Braham, J. & Sofer, D. (1974). Creutzfeldt–Jakob disease: focus among Libyan Jews in Israel. Science 183, 90–91.CrossRefGoogle ScholarPubMed
Kay, D. W. K., Beamish, P. & Roth, M. (1964). Old age mental disorders in Newcastle upon Tyne: Part 2. A study of possible social and medical causes. British Journal of Psychiatry 110, 668–682.CrossRefGoogle Scholar
Kondo, K., Kurland, L. T. & Schull, W. J. (1973). Parkinson's disease. Genetic analysis and evidence of a multifactorial etiology. Mayo Clinic Proceedings 48, 465–475.Google ScholarPubMed
Kurland, L. T. & Brody, J. A. (1975). Amyotrophic lateral sclerosis Guam type. In Handbook of Clinical Neurology, Vol. 22: System Disorders and Atrophies, Part 2 (ed. Vinken, P. J. and Bruyn, G. W.), pp. 339–347. North-Holland Publishing: Amsterdam.Google Scholar
Kurland, L. T. & Mulder, D. W. (1955). Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance. Neurology 5, 182–196.CrossRefGoogle ScholarPubMed
Landis, D. M. D., Rosenberg, R. N., Landis, S. C., Schut, L. & Nyhan, W. L. (1974). Olivopontocerebellar degeneration. Clinical and ultrastructural abnormalities. Archives of Neurology 31, 295–307.CrossRefGoogle ScholarPubMed
Langston, J. W., Ballard, P.,Tetrud, J. W. & Irwin, I. (1983). Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis. Science 219, 979–980.CrossRefGoogle ScholarPubMed
Lwoff, A. (1960). Tumor viruses and the cancer problem. Cancer Research 20, 820–829.Google ScholarPubMed
Martin, M. A., Bryan, T., Rasheed, S. & Khan, A. S. (1981). Identification and cloning of endogenous retroviral sequences present in human DNA. Proceedings of the National Academy of Sciences 78, 4892–4896.CrossRefGoogle ScholarPubMed
Martin, W. E., Young, W. I. & Anderson, V. E. (1973). Parkinson's disease. A genetic study. Brain 96, 495–506.CrossRefGoogle ScholarPubMed
Marx, R. N. (1973). Huntington's chorea in Minnesota. In Advances in Neurology, Vol. 1 (ed. Barbeau, A., Chase, T. N. and Paulson, G. W.), pp. 237–243. Raven Press: New York.Google Scholar
Masters, C. L., Gajdusek, D. D. C., Gibbs, C. J., Bernoulli, C. & Asher, D. M. (1979 a). Familial Creutzfeldt–Jakob disease and other familial dementias: an enquiry into possible modes of transmission of virus-induced familial disease. In Slow Transmissible Diseases of the Nervous System, Vol. 1 (ed. Prusiner, S. B. and Hadlow, W. J.), pp. 143–194. Academic Press: London.Google Scholar
Masters, C. L., Harris, J. D., Gajdusek, D. C., Gibbs, C. J., Bernoulli, C. & Asher, D. M. (1979 b). Creutzfeldt–Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering. Annals of Neurology 5, 177–188.CrossRefGoogle ScholarPubMed
Masters, C. L., Gajdusek, D. C. & Gibbs, C. J. (1981 a). Creutzfeldt–Jakob disease virus isolations from the Gerstmann–Straussler syndrome. Brain 104, 559–588.CrossRefGoogle ScholarPubMed
Masters, C. L., Gajdusek, D. C. & Gibbs, C. J. (1981 b). The familial occurrence of Creutzfeldt–Jakob disease and Alzheimer's disease. Brain 104, 535–558.CrossRefGoogle ScholarPubMed
Mayer, V., Orolin, D. & Mitrova, E. (1977). Cluster of Creutzfeldt–Jakob disease and presenile dementia. Lancet ii, 256.CrossRefGoogle Scholar
Medawar, P. B. (1957). The Uniqueness of the Individual. Methuen: London.CrossRefGoogle Scholar
Monreal, J., Collins, G. H., Masters, C. L., Fisher, C. M., Kim, R. C., Gibbs, C. J. & Gajdusek, D. C. (1981). Creutzfeldt–Jakob disease in an adolescent. Journal of Neurological Science 52, 341–350.CrossRefGoogle Scholar
Myers, R. H., Madden, J. J., Teague, J. L. & Falek, A. (1982). Factors related to onset age of Huntington's disease. American Journal of Human Genetics 34, 481–488.Google Scholar
Nee, L. E., Polinsky, R. J., Eldridge, R., Weingartner, H., Smallberg, S. & Ebert, M. (1983). A family with histologically confirmed Alzheimer's disease. Archives of Neurology 40, 203–208.CrossRefGoogle ScholarPubMed
Nelson, J., Leong, J.-A. & Levy, J. A. (1978). Normal human placentas contain RNA-directed DNA-polymerase activity like that in viruses. Proceedings of the National Academy of Sciences 75, 6263–6267.CrossRefGoogle ScholarPubMed
Neugat, R. H., Neugat, A., Kahana, E., Stein, Z. & Alter, M. (1979). Creutzfeldt–Jakob disease: familial clustering among Libyan–born Israelis. Neurology 29, 225–231.CrossRefGoogle Scholar
Newcombe, R. G., Walker, D. A. & Harper, P. S. (1981). Factors influencing age at onset and duration of survival in Huntington's chorea. Annals of Human Genetics 45, 387–396.CrossRefGoogle ScholarPubMed
Norman, C. (1985). Virus scare halts hormone research. Science 228, 1176–1177.CrossRefGoogle ScholarPubMed
Oesch, B., Westaway, D., Walchli, M., McKinley, M. P., Kent, S. B. H., Aebersold, R., Parry, R. A., Tempst, P., Taplow, D. B., Hood, L., Prusiner, S. B. & Weissmann, C. (1985). A cellular gene encodes scrapie PrP27–30 protein. Cell 40, 735–746.CrossRefGoogle Scholar
Packer, R. J., Cornblath, D. R., Gonatas, N. K., Bruno, L. A. & Asbury, A. K. (1980). Creutzfeldt–Jakob disease in a 20-year-old woman. Neurology 30, 492–496.CrossRefGoogle ScholarPubMed
Parker, N. (1985). Hereditary whispering dysphonia. Journal of Neurology, Neurosurgery and Psychiatry 48, 218–224.CrossRefGoogle ScholarPubMed
Parry, H. B. (1962). Scrapie: a transmissible and hereditary disease of sheep. Heredity 17, 75–105.CrossRefGoogle ScholarPubMed
Pattison, I. H. (1974). Scrapie in sheep selectively bred for high susceptibility. Nature 248, 594–595.CrossRefGoogle ScholarPubMed
Pattison, I. H., Hoare, M. N., Jebbet, J. N. & Watson, W. A. (1972). Spread of scrapie to sheep and goats by oral dosing with foetal membranes from scrapie-affected sheep. Veterinary Record 90, 465–468.CrossRefGoogle ScholarPubMed
Powell-Jackson, J., Weller, R. D., Kennedy, P., Preece, M. A., Whitcombe, E. M. & Newsom Davis, J. (1985). Creutzfeldt–Jakob disease after administration of human growth hormone. Lancet ii, 244–246.CrossRefGoogle Scholar
Prusiner, S. B. (1982). Novel proteinaceous infectious particles cause scrapie. Science 216, 136–144.CrossRefGoogle ScholarPubMed
Prusiner, S. B. (1984). Prions. Scientific American 251, 50–59.CrossRefGoogle ScholarPubMed
Reed, T. E. & Neel, J V. (1959). Huntington's chorea in Michigan: 2. Selection and mutation. American Journal of Human Genetics 11, 107–136.Google ScholarPubMed
Ridley, R. M., Baker, H. F. & Crow, T. J. (1985). Transmission studies of psychiatric and neurological disease: some reflections on the nature of the agent in transmissible dementia and the pathogenesis of neurodegenerative disease. In Viruses, Immunity and Mental Health (ed. Kurstak, E.). Plenum Press: New York. New York.Google Scholar
Rosen, A. D. (1978). Amyotrophic lateral sclerosis. Clinical features and prognosis. Archives of Neurology 35, 638–642.CrossRefGoogle ScholarPubMed
Schut, J. W. (1951). Hereditary ataxia: survey of certain clinical, pathologic and genetic features with linkage data on 5 additional hereditary factors. American Journal of Human Genetics 3, 93–110.Google Scholar
Sidman, R. L., Kinney, H. C. & Sweet, H. O. (1985). Transmissible spongiform encephalopathy in the gray tremor mutant mouse. Proceedings of the National Academy of Sciences 82, 253–257.CrossRefGoogle ScholarPubMed
Sinex, F. M. & Myers, R. H. (1982). Alzheimer's disease, Down's syndrome and ageing: the genetic approach. In Alzheimer's Disease, Down's Syndrome and Ageing (ed. Sinex, F. M. and Merrill, C. R.), pp. 3–13. Academy of Sciences: New York.Google Scholar
Spellman, G. G. (1962). Report of familial cases of Parkinsonism: evidence of a dominant trait in a patient's family. Journal of the American Medical Association 179, 372–374.CrossRefGoogle Scholar
Temin, H. M. (1980). Origin of retroviruses from cellular moveable genetic elements. Cell 21, 599–600.CrossRefGoogle ScholarPubMed
Wallace, D. C. & Parker, N. (1973). Huntington's chorea in Queensland. The most recent story. Advances in Neurology 1, 223–236.Google Scholar
Went, L. N., Vegter-Van der Vliss, M., Bruyn, G. W. & Volkers, W. S (1983). Huntington's Chorea in the Netherlands. The problem of genetic heterogeneity. Annals of Human Genetics 47, 205–214.CrossRefGoogle ScholarPubMed
Will, R. G. & Matthews, W. B. (1982). Evidence for case-to-case transmission of Creutzfeldt–Jakob disease. Journal of Neurology, Neurosurgery and Psychiatry 45, 235–238.CrossRefGoogle ScholarPubMed