APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy (original) (raw)

Nature Genetics volume 38, pages 24–26 (2006)Cite this article

Abstract

We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication showed abundant parenchymal and vascular deposits of amyloid-β peptides. Duplication of the APP locus, resulting in accumulation of amyloid-β peptides, causes ADEOAD with CAA.

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Acknowledgements

We thank A. Rossi, C. De La Rochebrochard and H. Moirot for cytogenetic materials, C. Duyckaerts and F. Letournel for brain tissue samples, F. Checler for antibodies to Aβ, J. Bou for technical assistance, A. Goldenberg, S. Jacquemont, E. De La Fournière, T. Dutoya, C. Thomas-Anterion and F. Pasquier for clinical evaluation of patients and M. Tosi for critical reading of the manuscript. A.R.-L. was supported by le Conseil Regional de Haute Normandie.

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Authors and Affiliations

  1. Inserm U614-IFRMP, Faculty of Medicine, Rouen, France
    Anne Rovelet-Lecrux, Didier Hannequin, Gregory Raux, Cécile Dumanchin, Sébastien Feuillette, Thierry Frebourg & Dominique Campion
  2. Department of Neurology, University Hospital, Rouen, France
    Didier Hannequin
  3. Laboratory of Cytogenetics, EFS Normandy, Bois-Guillaume, France
    Nathalie Le Meur
  4. Department of Pathology, University Hospital, Rouen, France
    Annie Laquerrière
  5. Department of Pathology, University Hospital, Bordeaux, France
    Anne Vital
  6. Inserm U679, Salpétrière Hospital, Paris, France
    Alexis Brice
  7. Department of Neurology, University Hospital, Nantes, France
    Martine Vercelletto
  8. Department of Neurology, University Hospital, Angers, France
    Frédéric Dubas
  9. Department of Research, CHSR, Sotteville les Rouen, France
    Dominique Campion

Authors

  1. Anne Rovelet-Lecrux
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  2. Didier Hannequin
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  3. Gregory Raux
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  4. Nathalie Le Meur
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  5. Annie Laquerrière
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  6. Anne Vital
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  7. Cécile Dumanchin
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  8. Sébastien Feuillette
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  9. Alexis Brice
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  10. Martine Vercelletto
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  11. Frédéric Dubas
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  12. Thierry Frebourg
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  13. Dominique Campion
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Correspondence toDominique Campion.

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The authors declare no competing financial interests.

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Rovelet-Lecrux, A., Hannequin, D., Raux, G. et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.Nat Genet 38, 24–26 (2006). https://doi.org/10.1038/ng1718

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