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Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene

Nature Genetics volume 1, pages 218–221 (1992)Cite this article

Abstract

Several families with an early–onset form of familial Alzheimer's disease have been found to harbour mutations at a specific codon (717) of the gene for the β–amyloid precursor protein (APP) on chromosome 21. We now report, a novel base mutation in the same exon of the APP gene which co–segregates in one family with presenile dementia and cerebral haemorrhage due to cerebral amyloid angiopathy. The mutation results in the substitution of alanine into glycine at codon 692. These results suggest that the clinically distinct entities, presenile dementia and cerebral amyloid angiopathy, can be caused by the same mutation in the APP gene.

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Affiliations

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

    Lydia Hendriks, Marc Cruts, Wim Van Hul & Christine Van Broeckhoven

  2. Department of Epidemiology and Biostatistics, Erasmus University Medical School, 3000 DR, Rotterdam, The Netherlands

    Cornelia M. van Duijn & Albert Hofman

  3. Laboratories of Neurobiology and Neuropathology, Department of Medicine, Born Bunge Foundation, University of Antwerp (UIA), Universiteitsplein 1, B-2610, Antwerpen, Belgium

    Patrick Cras & Jean-Jacques Martin

  4. Department of Neurology, Academical Hospital Dijkzigt, 3000 DR, Rotterdam, The Netherlands

    Frans van Harskamp

  5. Department of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA

    Andrew Warren & Melvin G. McInnis

  6. Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA

    Melvin G. McInnis & Stylianos E. Antonarakis

Authors
  1. Lydia Hendriks
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  2. Cornelia M. van Duijn
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  3. Patrick Cras
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  4. Marc Cruts
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  5. Wim Van Hul
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  6. Frans van Harskamp
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  7. Andrew Warren
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  8. Melvin G. McInnis
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  9. Stylianos E. Antonarakis
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  10. Jean-Jacques Martin
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  11. Albert Hofman
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  12. Christine Van Broeckhoven
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Hendriks, L., van Duijn, C., Cras, P. et al. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene. Nat Genet 1, 218–221 (1992). https://doi.org/10.1038/ng0692-218

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  • DOI: https://doi.org/10.1038/ng0692-218

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