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Table 1 Current classification of human prion diseases according to etiology and phenotypic features

From: Towards an improved early diagnosis of neurodegenerative diseases: the emerging role of in vitro conversion assays for protein amyloids

Diseases Etiology Phenotype(s)a
Creutzfeldt-Jakob disease Sporadic MM(V)1 (typical/myoclonic variant)
VV2 (ataxic/cerebellar or Brownell-Oppenheimer variant)
MV2K (kuru-plaque variant)
MM(V)2C (cortical variant)
VV1 (cortico-striatal variant)
Atypical MM1 with PrP-amyloid plaques in white matter
Genetic According to PRNP haplotype (mutation + codon 129) and PrPSc type
Acquired I. Iatrogenic (MM1, VV2, MV2K and MMiKb)
II. Variant
Fatal Insomnia Sporadic MM2T (thalamic variant)
Genetic Fatal familial insomnia or MM(V)2T (thalamic variant)
Gerstmann-Sträussler-Scheinker disease Genetic According to PRNP haplotype (mutation + codon 129) and size/s of PrPSc fragment/s
Variably protease-sensitive prionopathy Sporadic According to PRNP codon 129 genotype and PK-resistance of PrPSc fragments
  1. aThe nomenclature and classification of sporadic Creutzfeldt-Jakob disease in distinct phenotypes is largely based on the combination of the genotype at codon 129 of PRNP (methionine, M, or valine, V) and the PrPSc type 1 or 2, as defined by the distinctive size (21 and 19 kDa) of their PK-resistant core
  2. bi (=intermediate) refers to an electrophoretic mobility halfway between types 1 and 2; k = with PrP-amyloid kuru plaques