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Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene

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Abstract

A MUTATION at codon 717 of the β-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family1. This mutation has been reported in a further five out of ∼ 100 families multiply affected by Alzheimer's disease1–4. We have identified another family, F19, in which we have detected linkage between the β-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 (ref. 5) in affected individuals from this family has revealed a base change producing a Val → Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.

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Author notes

  1. Andrew Warren: Departments of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA

  2. Mike Mullan: To whom correspondence should be addressed

Authors and Affiliations

  1. Alzheimer's Disease Research Group, Departments of Biochemistry and Neurology, St Mary's Hospital Medical School, Imperial College, London, W2 1PG, UK

    Marie-Christine Chartier-Harlin, Fiona Crawford, Henry Houlden, Andrew Warren, David Hughes, Liana Fidani, Alison Goate, Martin Rossor, Penelope Roques, John Hardy & Mike Mullan

Authors
  1. Marie-Christine Chartier-Harlin
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  2. Fiona Crawford
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  3. Henry Houlden
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  4. Andrew Warren
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  5. David Hughes
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  6. Liana Fidani
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  7. Alison Goate
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  8. Martin Rossor
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  9. Penelope Roques
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  10. John Hardy
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  11. Mike Mullan
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Chartier-Harlin, MC., Crawford, F., Houlden, H. et al. Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene. Nature 353, 844–846 (1991). https://doi.org/10.1038/353844a0

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  • DOI: https://doi.org/10.1038/353844a0

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