Hostname: page-component-55f67697df-sqlfs Total loading time: 0 Render date: 2025-05-12T13:27:57.772Z Has data issue: false hasContentIssue false
  • English
  • Français

Familial Alzheimer Dementia: a prevalent disorder with specific clinical features

Published online by Cambridge University Press:  09 July 2009

John C. S. Breitner  and
Marshal F. Folstein
John C. S. Breitner*
Affiliation:
Department of Psychiatry and Behavioral Science, The Johns Hopkins University, Baltimore, Maryland, USA
Marshal F. Folstein
Affiliation:
Department of Psychiatry and Behavioral Science, The Johns Hopkins University, Baltimore, Maryland, USA
*
1Address for correspondence: Dr John C. S. Breitner Department of Psychiatry, Baltimore City Hospitals, Baltimore, MD 21224, USA.
Get access Rights & Permissions [Opens in a new window]

Synopsis

The early literature on Alzheimer Dementia (AD) describes the clinical features aphasia, apraxia and agraphia as characteristic. We investigated the hypothesis that these features would specifically identify the familial form of AD (FAD). Since pedigree studies had suggested that FAD is an autosomal dominant genetic disorder, we hypothesized that the first-degree relatives of language-disordered or apractic AD probands would show at least 50% lifetime risks of dementia. Using standardized methods, we screened 3500 nursing home beds for stringently defined AD cases and controls, tested for agraphia, and obtained probands' clinical and family histories from multiple informants. Language disorder and apraxia were found in 78% of AD cases. They strongly predicted familial aggregation of dementia, with a 90-year lifetime incidence among relatives exceeding 50%, or 7 times the control values. The results suggest that language disorder and apraxia specifically identify a distinct clinical entity, Familial Alzheimer Dementia, that is among the commonest forms of senile dementia.

Type
Research Article
Information
Psychological Medicine , Volume 14 , Issue 1 , February 1984 , pp. 63 - 80
Copyright
Copyright © Cambridge University Press 1984

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Article purchase

Temporarily unavailable

References

Åkesson, H. O. (1969). A population study of senile and arteriosclerotic psychoses. Human Heredity 19, 546–566.CrossRefGoogle ScholarPubMed
Alzheimer, A. (1907). Über eine eigenartige Erkrankung der Hirnrinde. Allgemeine Zeitschrift für Psychiatrisch und Psychisch-Gerichtlich Medizin 64, 146. Translated by Wilkins R. H. & Brody I. A. (1969). Archives of Neurology 21, 109.Google Scholar
American Psychiatric Association (1980). Diagnostic and Statistical Manual of Mental Disorders (third edn). APA: Washington, D.C.Google Scholar
Andreasen, N. C., Endicott, J. & Spitzer, R. L. (1977). The family history method using diagnostic criteria: reliability and validity. Archives of General Psychiatry 34, 1229–1235.Google Scholar
Blessed, G., Tomlinson, B. E. & Roth, M. (1968). The association between quantitative measures of dementia and of senile changes in the cerebral grey matter of elderly subjects. British Journal of Psychiatry 114, 797–811.Google Scholar
Bondareff, W., Mountjoy, C. Q. & Roth, M. (1981). Selective loss of neurons of origin of adrenergic projection to cerebral cortex (nucleus locus coruleus) in senile dementia. Lancet i, 783–784.CrossRefGoogle Scholar
Burger, P. C. & Vogel, F. S. (1973). The development of the pathologic changes of Alzheimer's disease and senile dementia in patients with Down's Syndrome. American Journal of Pathology 73, 457–476.Google ScholarPubMed
Chase, G. A., Folstein, M. F., Breitner, J. C. S., Beaty, J. H. & Self, S. G. (1983). The use of life tables and survival analysis in testing genetic hypotheses with an application to Alzheimer's Disease. American Journal of Epidemiology 7, 590–597.CrossRefGoogle Scholar
Constantinides, J. (1968). Correlations between age and onset of dysmnesia and the degree of cerebral degeneration. In Senile Dementia: Clinical and Therapeutic Aspects (ed. Müller, C. and Ciompi, L.), pp. 29–33. Hans Huber: Bern.Google Scholar
Constantinides, J., Richard, J. & Ajuriaguerra, J. (1978). Dementia with senile plaques and neurofibrillary changes. In Studies in Geriatric Psychiatry (ed. Isaacs, A. D. and Post, F.), pp. 119–152. John Wiley & Sons: New York.Google Scholar
Cook, R. H., Ward, B. & Austin, J. (1979). Studies in aging of the brain. IV. Familial Alzheimer's disease: relation to transmissible dementia, aneuploidy and microtubular defects. Neurology 29, 1402–1412.Google Scholar
Corsellis, J. A. N. (1962). Mental Illness and the Aging Brain. Maudsley Monograph No. 9. Oxford University Press: London.Google Scholar
Crapper, D. R., Krishman, S. S. & Quittkat, S. (1976). Aluminum, neurofibrillary degeneration, and Alzheimer's disease. Brain 99, 67–80.CrossRefGoogle ScholarPubMed
Feldman, R. G., Chandler, K., Levy, L. & Glaser, G. (1963). Familial Alzheimer's Disease. Neurology 13, 811–820.CrossRefGoogle ScholarPubMed
Folstein, M. F. & Breitner, J. C. S. (1981). Language disorder predicts familial Alzheimer's Disease. Johns Hopkins Medical Journal 149, 145–147.Google ScholarPubMed
Folstein, M. F., Folstein, S. E. & McHugh, P. R. (1975). ‘Mini Mental State’. A practical method for grading the cognitive state of patients for the clinician. Journal of Psychiatric Research 12, 189–198.CrossRefGoogle Scholar
Gross, A. J. & Clark, V. A. (1975). Survival Distributions: Reliability Applications in the Biomedical Sciences. John Wiley & Sons: New York.Google Scholar
Gruenberg, E. (1978). Epidemiology of senile dementia. Advances in Neurology 19, 437–457.Google Scholar
Heston, L. L. (1979). Alzheimer disease and senile dementia – genetic relationships to Down's Syndrome and hematologic cancer. In Congenital and Acquired Cognitive Disorders (ed. Katzman, R.), pp. 167–176. Raven Press: New York.Google Scholar
Heston, L. L. (1981). Dementia of the Alzheimer's type.Reported at Mini-White House Conference on Aging: Alzheimer's Disease and Related Disorders,Bethesda, MD.Google Scholar
Heston, L. L., Mastri, A. R., Anderson, V. E. & White, J. (1981). Dementia of the Alzheimer type. Clinical genetics, natural history and associated conditions. Archives of General Psychiatry 38, 1085–1090.CrossRefGoogle ScholarPubMed
Kaplan, E. L. & Meier, P. (1958). Non-parametric estimation from incomplete observations. Journal of the American Statistical Association 53, 457–481.CrossRefGoogle Scholar
Katzman, R. (1976). The prevalence and malignancy of Alzheimer's disease: a major killer. Archives of Neurology 33, 217–218.CrossRefGoogle ScholarPubMed
Kay, D. W. K., Beamish, P. & Roth, M. (1964). Old age psychiatric disorders in Newcastle upon Tyne. I. British Journal of Psychiatry 110, 146–158.CrossRefGoogle Scholar
Kay, D. W. K. & Bergmann, K. (1980). Epidemiology of mental disorders in the community. In Handbook of Mental Health and Aging (ed. Birren, J. E. and Sloane, R. B.), pp. 34–56. Prentice-Hall: Englewood Cliffs, New Jersey.Google Scholar
Kramer, M., Taube, C. A. & Redick, R. W. (1973). Patterns of use of psychiatric facilities by the aged: past, present and future. In The Psychology of Adult Development and Aging (ed. Eisdorfer, C. and Lawston, M. P.), pp. 428–528. American Psychological Association: Washington, D.C.Google Scholar
Larsson, T., Sjögren, T. & Jacobson, G. (1963). Senile dementia: a clinical, sociomedical and genetic study. Acta Psychiatrica Scandinavica 39, Suppl. 167.Google Scholar
Lauter, H. & Meyer, J. E. (1968). Clinical and nosological concepts of senile dementia. In Senile Dementia: Clinical and Therapeutic Aspects (ed. Müller, C. and Ciompi, L.), pp. 13–27. Hans Huber: Bern.Google Scholar
Lilienfeld, A. (1976). Foundations of Epidemiology, Oxford University Press: New York.Google Scholar
Marsden, C. D. (1978). The diagnosis of dementia. In Studies in Geriatric Psychiatry (ed. Isaacs, A. D. and Post, F.), pp. 99–110. John Wiley & Sons: New York.Google Scholar
McHugh, P. R. (1982). Dementia. In Cecil's Textbook of Medicine (ed. Beeson, P. B., McDermott, W. and Wyngaarden, J. B.), pp. 1979–1981. W. B. Saunders: Philadelphia.Google Scholar
McKusick, V. A. (1983). Mendelian Inheritance in Man (6th edn), pp. 30–31. The Johns Hopkins University Press: Baltimore.Google Scholar
Naguib, M. & Levy, R. (1982). Prediction of outcome in senile dementia. A computed tomography study. British Journal of Psychiatry 140, 263–267.CrossRefGoogle ScholarPubMed
Nielsen, J., Homma, A. & Biorn-Henriksen, T. (1977). Follow-up 15 years after a gerontopsychiatric prevalence study. Journal of Gerontology 32, 554–561.CrossRefGoogle ScholarPubMed
Powell, D. & Folstein, M. F. (1984). Pedigree study of familial Alzheimer disease. Journal of Neurogenetics (in the press).CrossRefGoogle Scholar
Prichard, J. C. (1837). A Treatise on Insanity and Other Disorders Affecting the Mind. Haswell Barrington and Haswell: Philadelphia.Google Scholar
Roth, M. (1955). The natural history of mental disorders in old age. Journal of Mental Science 102, 281–293.CrossRefGoogle Scholar
Sjögren, T., Sjögren, H. & Lundgren, G. H. (1952). Morbus Alzheimer and Morbus Pick. Acta Psychiatrica Scandinavica Suppl. 82.Google Scholar
Slater, E. T. O. & Cowie, V. (1971). The Genetics of Mental Disorders. Oxford University Press: London.Google Scholar
Stengel, E. (1964). Psychopathology of dementia. Proceedings of the Royal Society of Medicine 57, 911–914.Google Scholar
Terry, R. D. (1980). Structural changes in senile dementia of the Alzheimer type. In Aging of the Brain and Dementia (Aging Vol. 13) (ed. Amaducci, L., Davison, A. N. and Antuono, P.), pp. 23–32. Raven Press: New York.Google Scholar
Tomlinson, B. E., Blessed, G. & Roth, M. (1970). Observations on the brains of demented old people. Journal of Neurological Science 12, 205–242.CrossRefGoogle Scholar
Whitehouse, P. J., Price, D. L., Clark, A. W., Coyle, J. T. & DeLong, M. R. (1981). Alzheimer Disease: evidence for selective loss of cholinergic neurons in the nucleus basalis. Annals of Neurology 10, 122–126.CrossRefGoogle ScholarPubMed
Whitehouse, P. J., Price, D. L., Struble, R. G., Clark, A. W., Coyle, J. T. & DeLong, M. R. (1982). Alzheimer's Disease and senile dementia: loss of neurons in the basal forebrain. Science 215, 1237–1239.CrossRefGoogle ScholarPubMed
Wisniewski, H. M., Narang, H., Corsellis, J. & Terry, R. D. (1976). Ultrastructural studies of the neuropil and neurofibrillary tangles in Alzheimer's Disease and post-traumatic dementia. Journal of Neuropathology and Experimental Neurology 35, 367.Google Scholar