Neuropathological diagnosis of prion disease
Murayama, S.; Saito, Y.; Hatsuta, H.; Sakiyama, Y.
Nihon Rinsho. Japanese Journal of Clinical Medicine 65(8): 1401-1406
2007
ISSN/ISBN: 0047-1852 PMID: 17695276 Document Number: 613570
Neuropathological diagnosis of prion disease consists of sequence analysis of PRNP (prion protein gene), located on chromosome 20 and characterization and visualization of deposited proteinase K-resistant prion protein (PrP(Sc)). SNP at 129 locus (M/V) and Type 1 and Type 2 difference in Western blot analysis of PrP(Sc) from the postmortem brain influence the clinical and pathological presentations. Prion disease is classified into sporadic, hereditary and infectious subtypes, but PrP(Sc) from almost all the subtypes can transmit the disease to transgenic mice expressing human PRNP. Variant CJD, apparently derived from bovine spongiformic encephalopathy, requires shift in disease control strategy, in that PrP(Sc) is present in peripheral lymphatic organs.