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	Pierluigi Gambetti, Qingzhong Kong, Wenquan Zou, Piero Parchi, Shu G Chen
Journal	British medical bulletin (Br Med Bull) Vol. 66 Pg. 213-39 ( 2003) ISSN: 0007-1420 [Print] England
PMID	14522861 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., Review)
Chemical References	Amyloid PRNP protein, human PrPC Proteins PrPSc Proteins Prion Proteins Prions Protein Precursors
Topics	Adolescent Adult Age of Onset Aged Aged, 80 and over Amyloid (chemistry, genetics) Ataxia (etiology) Brain (pathology) Brain Chemistry Cognition Disorders (etiology) Creutzfeldt-Jakob Syndrome (classification, diagnosis, genetics) Dementia (etiology) Genetic Diseases, Inborn (classification, diagnosis, genetics) Genotype Haplotypes Humans Immunohistochemistry Insomnia, Fatal Familial (classification, diagnosis, genetics) Middle Aged Mutation PrPC Proteins (chemistry, genetics) PrPSc Proteins (genetics) Prion Proteins Prions Protein Precursors (chemistry, genetics)

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