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

  • L. Hendriks
  • C. Van Broeckhoven
  • the Alzheimer’s Disease Research Group
Conference paper
Part of the Research and Perspectives in Alzheimer’s Disease book series (ALZHEIMER)

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.

Keywords

Cerebral Amyloid Angiopathy Short Tandem Repeat Marker Amyloid Precursor Protein Gene Amyloid Precursor Protein Mutation Presenile Dementia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© Springer-Verlag Berlin Heidelberg 1994

Authors and Affiliations

  • L. Hendriks
    • 1
  • C. Van Broeckhoven
  • the Alzheimer’s Disease Research Group
  1. 1.Laboratory of Neurogenetics, Born Bunge Foundation, Department of BiochemistryUniversity of Antwerp (UIA)AntwerpBelgium

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