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Table 1 Synopsis of molecular classification and phenotypes of sCJD subtypes and variants

From: A novel mechanism of phenotypic heterogeneity in Creutzfeldt-Jakob disease

sCJD subtypea; Prevalence (%)Histopathological phenotypeWB
resPrPD Profile
MV2K; ~ 8SD pseudo-laminar in CC (Fig. 1a-d); kuru pl. in Cbl. IHC: fine punctate in CC; Cbl (Fig. 1a-d)Type 2 (19 kDa) + Type ~ 1 (20 kDa)
MV2C; ~ 2SD: large confluent vacuoles mostly in CC. IHC: co-distributing with SD (Fig. 1e-h).Type 2 (19 kDa)
MV1; 5SD with fine vacuoles predominantly in CC; IHC: fine punctate pattern in SD regions; in Cbl “brushstroke” pattern (Fig. 1s-u)Type 1 (21 kDa)
VV2; 15SD like MV2K in CC; no kuru plaques but plaque-like aggregates in Cbl (Not shown)Type 2 (19 kDa)
MM2; 4As MV2C (Fig. 1i-l)Similar but not identical to MV2C
MM1; 64As MV1 (Fig. 1v-x)As MV1
  1. aSubtype terminology: M (methionine) and V (valine) refer to the genotype at PrP codon 129; 1 and 2 refer to PrPD types 1 and 2, which along with the 129 genotype are major determinants of the disease phenotype; the C in MV2C refers to the severe involvement of the cerebral cortex in this condition as in MM2; K in MV2K refers to the presence of kuru plaques. Abbreviations: CC cerebral cortex, SD spongiform degeneration, IHC PrP immunohistochemistry. Figure 1 panels illustrate the features of SD and IHC patterns. The VV1 subtype (2% prevalence) has been omitted