title: Sporadic and familial CJD: classification and characterisation.
abstract: Prion diseases are unique transmissible neurodegenerative diseases that have diverse phenotypes and can be familial, sporadic, or acquired by infection. Recent findings indicate that the PrP genotype and the PrP(Sc) type have a major influence on the disease phenotype in both sporadic and familial human prion diseases. This review attempts to classify and characterise sporadic and familial Creutzfeldt-Jakob disease (CJD) as a function of these two disease determinants. Based on the genotype at codon 129 on both PRNP alleles, the size of protease resistant PrP(Sc) fragments and disease phenotype, we divide sporadic CJD into six subtypes: sCJDMM1/sCJDMV1, sCJDVV2, sCJDMV2, sCJDMM2, sCJDVV1, and sporadic fatal insomnia (sFI). Familial CJD is classified into many haplotypes based on the PRNP mutation and codon 129 (and other polymorphic codons) on the mutant allele. The clinical and pathological features are summarised for each sporadic CJD subtype and familial CJD haplotype.
authors.affiliation: Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106, USA.
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Gambetti
authors.forename: Qingzhong
authors.initials: Q
authors.lastname: Kong
authors.forename: Wenquan
authors.initials: W
authors.lastname: Zou
authors.forename: Piero
authors.initials: P
authors.lastname: Parchi
authors.forename: Shu G
authors.initials: SG
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000682:Amyloid / Q000737:chemistry / Q000235:genetics; D001259:Ataxia / Q000209:etiology; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D003072:Cognition Disorders / Q000209:etiology; D007562:Creutzfeldt-Jakob Syndrome / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D003704:Dementia / Q000209:etiology; D030342:Genetic Diseases, Inborn / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007150:Immunohistochemistry; D034062:Insomnia, Fatal Familial / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D018621:PrPC Proteins / Q000737:chemistry / Q000235:genetics*; D018620:PrPSc Proteins / Q000235:genetics; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000737:chemistry / Q000235:genetics
chemical_list: D000682:Amyloid; C512656:PRNP protein, human; D018621:PrPC Proteins; D018620:PrPSc Proteins; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors