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Title: Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion
Authors: Dermaut, Bart
Cruts, M
Backhovens, H
Lübke, U
Van Everbroeck, B
Sciot, Raphael
Dom, René
Martin, J J
Van Broeckhoven, C
Cras, P #
Issue Date: May-2000
Series Title: Journal of neurology vol:247 issue:5 pages:364-8
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.
ISSN: 0340-5354
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Cell & Tissue Research
# (joint) last author

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