Abstract:
:Fatal Familial Insomnia (FFI) is a genetic prion disease caused by a point mutation in the prion protein gene (PRNP) characterized by prominent thalamic atrophy, diffuse astrogliosis and moderate deposition of PrPSc in the brain. Here, for the first time, we demonstrate that the olfactory mucosa (OM) of patients with FFI contains trace amount of PrPSc detectable by PMCA and RT-QuIC. Quantitative PMCA analysis estimated a PrPSc concentration of about 1 × 10-14 g/ml. In contrast, PrPSc was not detected in OM samples from healthy controls and patients affected by other neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease and frontotemporal dementia. These results indicate that the detection limit of these assays is in the order of a single PrPSc oligomer/molecule with a specificity of 100%.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Redaelli V,Bistaffa E,Zanusso G,Salzano G,Sacchetto L,Rossi M,De Luca CM,Di Bari M,Portaleone SM,Agrimi U,Legname G,Roiter I,Forloni G,Tagliavini F,Moda Fdoi
10.1038/srep46269subject
Has Abstractpub_date
2017-04-07 00:00:00pages
46269issn
2045-2322pii
srep46269journal_volume
7pub_type
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