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Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion

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Abstract

We describe a patient who was clinically diagnosed with familial early-onset Alzheimer disease (AD) carrying both the E318G substitution in presenilin 1 (PSEN1) and an insertion of 7 octapeptide coding repeats in the prion protein gene (PRNP). Neuropathological examination revealed elongated cerebellar prion protein deposits in the absence of AD pathology. Further analysis of other family members showed that the Creutzfeldt-Jakob disease phenotype in this family was caused solely by the PRNP insertion. This observation is consistent with our previous finding that PSEN1 E318G is not causally related to AD.

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Authors and Affiliations

  1. Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology, Neurogenetics Group, Born Bunge Foundation, University of Antwerp, Department of Biochemistry, Universiteitsplein 1, 2610 Antwerp, Belgium, BE

    Bart Dermaut, Marc Cruts, Hubert Backhovens & Christine Van Broeckhoven

  2. Laboratory of Neurobiology, Born Bunge Foundation, University of Antwerp, Department of Medicine, Universiteitsplein 1, 2610 Antwerp, Belgium, E-mail: cras@uia.ua.ac.be, Tel.: +32-3-8213423, Fax: +32-3-8255467, BE

    Bart Van Everbroeck & Patrick Cras

  3. Laboratory of Neuropathology, Born Bunge Foundation, University of Antwerp, Department of Medicine, Universiteitsplein 1, 2610 Antwerp, Belgium, BE

    Ursula Lübcke & Jean-Jacques Martin

  4. Laboratory of Neuropathology, Catholic University of Leuven, Faculty of Medicine, Herestraat 49, 3000 Leuven, Belgium, BE

    Raf Sciot & René Dom

Authors
  1. Bart Dermaut
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  2. Marc Cruts
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  3. Hubert Backhovens
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  4. Ursula Lübcke
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  5. Bart Van Everbroeck
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  6. Raf Sciot
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  7. René Dom
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  8. Jean-Jacques Martin
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  9. Christine Van Broeckhoven
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  10. Patrick Cras
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Additional information

Received: 14 July 1999, Received in revised form: 15 September 1999, Accepted: 12 January 2000

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Dermaut, B., Cruts, M., Backhovens, H. et al. Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion. J Neurol 247, 364–368 (2000). https://doi.org/10.1007/s004150050603

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  • DOI: https://doi.org/10.1007/s004150050603

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