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Genetic Defects in Early Onset Alzheimer’s Disease and Related Disorders

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Amyloid Protein Precursor in Development, Aging and Alzheimer’s Disease

Part of the book series: Research and Perspectives in Alzheimer’s Disease ((ALZHEIMER))

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Summary

There is sufficient evidence that genes play an important role in the aetiology of Alzheimer’s disease (AD). In families with patients with an early onset of AD (EOAD) before the age of 65 years, the disease segregates as an autosomal dominant trait. Molecular genetic techniques have been applied to these families and hitherto two different genetic loci have been identified. One is the amyloid precursor protein (APP) gene on chromosome 21q21.2. In a few EOAD families mutations in APP at codons 717 and 670/671 have been detected. APP mutations have also been identified in AD-related disorders. A mutations at codon 693 in APP causes hereditary cerebral haemorrhages with amyloidosis Dutch type (HCHWA-D). In a family segregating both presenile dementia of the AD type and cerebral haemorrhages, a mutation was identified at codon 692 of APP. A second locus was identified on chromosome 14q24.3, which seems to be responsible for EOAD in 70% of the families. The chromosome 14 EOAD gene has not been identified yet.

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Authors and Affiliations

  1. Laboratory of Neurogenetics, Born Bunge Foundation, Department of Biochemistry, University of Antwerp (UIA), 2610, Antwerp, Belgium

    L. Hendriks

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  1. L. Hendriks
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  2. C. Van Broeckhoven
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the Alzheimer’s Disease Research Group

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Editors and Affiliations

  1. Department of Pathology, The University of Melbourne and The Mental Health Research Institute of Victoria, Parkville, Victoria, 3025, Australia

    C. L. Masters M.D.

  2. Center for Molecular Biology, University of Heidelberg, Im Neuenheimer Feld 282, 69120, Heidelberg, Germany

    K. Beyreuther Ph.D.

  3. Hôpital Neurologique, 59, Bld Pinel, 69003, Lyon, France

    M. Trillet Prof.

  4. Fondation IPSEN, 24, rue Erlanger, 75781, Paris, France

    Y. Christen Ph.D.

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© 1994 Springer-Verlag Berlin Heidelberg

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Hendriks, L., Van Broeckhoven, C., the Alzheimer’s Disease Research Group. (1994). Genetic Defects in Early Onset Alzheimer’s Disease and Related Disorders. In: Masters, C.L., Beyreuther, K., Trillet, M., Christen, Y. (eds) Amyloid Protein Precursor in Development, Aging and Alzheimer’s Disease. Research and Perspectives in Alzheimer’s Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-01135-5_19

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  • DOI: https://doi.org/10.1007/978-3-662-01135-5_19

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-01137-9

  • Online ISBN: 978-3-662-01135-5

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