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Down syndrome: a model for the study of Alzheimer’s disease and aging

  • Chapter
Early Markers in Parkinson’s and Alzheimer’s Diseases

Part of the book series: New Vistas in Drug Research ((DRUG RESEARCH,volume 1))

Summary

Down syndrome is defined by the association of a number of features usually observed in patients with trisomy of chromosome 21. Different forms of aneuploidy are encountered: free trisomy 21 (the most frequent), partial trisomy 21, unbalanced translocation, mosaicism, and microduplications of a short chromosomic fragment. Comparison of genotype and phenotype permitted us to define a critical region for the pathogenesis of Down syndrome, on the proximal part ar 21 q 22.3. Down syndrome is also associated with early manifestation of aging and Alzheimer like neuropathology; this pathology results from the presence of an extra copy of one or few genes on chromosome 21. We hypothesize that Alzheimer’s disease might, at least in certain patients, be secondary to a chromosome 21 defect susceptible to induce the overexpression of this or these genes. Experimental approaches for testing this hypothesis have been recently developed, both in familial and sporadic Alzheimer’s disease.

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Authors and Affiliations

  1. Laboratoire de Biochimie Génétique, URA CNRS 1335, Paris, France

    J. M. Delabar, Z. Rahmani, Z. Chettouh, A. Nicole, A. Bruel & P. M. Sinet

  2. INSERM U 173, Paris, France

    J. L. Blouin & N. Créau-Goldberg

  3. Service de Cytogénétique, Hôpital Necker, Paris, France

    M. C. de Blois

Authors
  1. J. M. Delabar
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  2. J. L. Blouin
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  3. Z. Rahmani
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  4. N. Créau-Goldberg
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  5. Z. Chettouh
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  6. A. Nicole
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  7. A. Bruel
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  8. M. C. de Blois
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  9. P. M. Sinet
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Editors and Affiliations

  1. Farmitalia Carlo Erba, R & D, Via Imbonati 24, I-20159, Milan, Italy

    Philippe Dostert , Margherita Strolin Benedetti  & Romeo Roncucci ,  & 

  2. Clinical Neurochemistry, Department of Psychiatry, University of Würzburg, Füchsleinstrasse 15, D-W-8700, Würzburg, Federal Republic of Germany

    Peter Riederer

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© 1990 Springer-Verlag/Wien

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Delabar, J.M. et al. (1990). Down syndrome: a model for the study of Alzheimer’s disease and aging. In: Dostert, P., Riederer, P., Strolin Benedetti, M., Roncucci, R. (eds) Early Markers in Parkinson’s and Alzheimer’s Diseases. New Vistas in Drug Research, vol 1. Springer, Vienna. https://doi.org/10.1007/978-3-7091-9098-2_17

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  • DOI: https://doi.org/10.1007/978-3-7091-9098-2_17

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-7091-9100-2

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