Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion
| Autor: | B Van Everbroeck, J.J. Martin, C. Van Broeckhoven, Patrick Cras, Marc Cruts, U. Lübke, Raphael Sciot, H Backhovens, René Dom, Bart Dermaut |
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| Rok vydání: | 2000 |
| Předmět: |
Adult
Male Prions animal diseases Nonsense mutation Mutation Missense Biology Creutzfeldt-Jakob Syndrome Presenilin PRNP Meninges mental disorders Presenilin-1 medicine PSEN1 Humans Missense mutation Insertion Brain Membrane Proteins medicine.disease Virology Pedigree nervous system diseases Amino Acid Substitution Neurology DNA Transposable Elements Familial Creutzfeldt-Jakob Female Neurology (clinical) Alzheimer's disease |
| Zdroj: | Journal of neurology |
| ISSN: | 1432-1459 0340-5354 |
| DOI: | 10.1007/s004150050603 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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