Brief Communication

Neurobiology: Presenilin-1 mutations in Alzheimer's disease

  • Nature volume 405, pages 531532 (01 June 2000)
  • doi:10.1038/35014735
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Subjects

Abstract

Mutations in the gene encoding the protein presenilin-1 are the most common cause of familial Alzheimer's disease1 and they often produce a different disease course from sporadic Alzheimer's and another familial form associated with mutations in the gene encoding β-amyloid precursor protein2. Here we show that a peculiar form of β-amyloid that is devoid of the first ten amino acids accumulates in the brains of patients carrying presenilin-1 mutations, and is more abundant than in subjects affected by the other types of Alzheimer's.

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Author information

Author notes

    • J. K. Teller

    Present address: Department of Physiology, Brody School of Medicine, East Carolina University, Greenville , North Carolina 27834, USA

Affiliations

  1. *Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106, USA

    • C. Russo
    • , P. Gambetti
    •  & J. K. Teller
  2. †National Institute for Cancer Research, Advanced Biotechnology Center, Neuroscience Department, Section of Pharmacology, University of Genova, Italy

    • C. Russo
    •  & G. Schettini
  3. ‡Laboratory for Proteolytic Neuroscience, RIKEN Brain Science Institute, Saitama, Japan

    • T. C. Saido
  4. §Kathleen Price Bryan Brain Bank and Neuropathology Core, Duke University Medical Center, Durham, North Carolina 27710, USA

    • C. Hulette
  5. Department of Neurology, MCP Hahnemann University, Philadelphia, Pennsylvania 19129 , USA

    • C. Lippa
  6. ¶Karolinska Institute, Geriatric Laboratory, Huddinge Hospital, 141 46 Huddinge, Sweden

    • L. Lannfelt
  7. #Department of Pathology, Indiana University Medical Center, Indianapolis, Indiana 46202 , USA

    • B. Ghetti
  8. Institute of Neurology, Genova, Italy

    • M. Tabaton

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Corresponding author

Correspondence to P. Gambetti.

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