ISSN:
1432-1459
Keywords:
Key words Creutzfeldt-Jakob disease
;
Alzheimer's disease
;
Prion
;
Presenilin
;
Immunohistochemistry
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004150050603
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