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

Lydia Hendriks, Cornelia M. van Duijn, Patrick Cras, Marc Cruts, Wim Van Hul, Frans van Harskamp, Andrew Warren, Melvin G. McInnis, Stylianos E. Antonarakis, Jean Jacques Martin, Albert Hofman, Christine Van Broeckhoven

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)218-221
Number of pages4
JournalNature genetics
Volume1
Issue number3
DOIs
StatePublished - Jun 1992

ASJC Scopus subject areas

  • Genetics

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    Hendriks, L., van Duijn, C. M., Cras, P., Cruts, M., Van Hul, W., van Harskamp, F., Warren, A., McInnis, M. G., Antonarakis, S. E., Martin, J. J., Hofman, A., & Van Broeckhoven, C. (1992). Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene. Nature genetics, 1(3), 218-221. https://doi.org/10.1038/ng0692-218