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Prion disease genetics Mead SEur J Hum Genet 2006[Mar]; 14 (3): 273-81Prion diseases have stimulated intense scientific scrutiny since it was proposed that the infectious agent was devoid of nucleic acid. Despite this finding, genetics has played a key role in understanding the pathobiology and clinical aspects of prion disease through the effects of a series of polymorphisms and mutations in the prion protein gene (PRNP). The advent of variant Creutzfeldt-Jakob disease has confirmed one of the most powerful human genetic susceptibility factors, as all tested patients have an identical genotype at polymorphic codon 129 of PRNP. This review will also consider the accrued reports of inherited prion disease and attempt a genotype-phenotype correlation. The prospects for detection of novel genetic susceptibility factors using mouse models and human genetic association studies will be explored.|*Mutation[MESH]|Adult[MESH]|Age Factors[MESH]|Aged[MESH]|Aged, 80 and over[MESH]|Animals[MESH]|Cerebellum/metabolism[MESH]|Creutzfeldt-Jakob Syndrome/genetics[MESH]|Genetic Predisposition to Disease/genetics[MESH]|Genetic Variation[MESH]|Genotype[MESH]|Humans[MESH]|Male[MESH]|Mice[MESH]|Middle Aged[MESH]|Models, Genetic[MESH]|Nucleic Acids/genetics[MESH]|Phenotype[MESH]|Polymorphism, Genetic[MESH]|Prion Diseases/*genetics[MESH]|Prions/*genetics/metabolism[MESH] |
