Neurology · 1994 · 45 citations · 0 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPrion DiseasesCreutzfeldt-jakob DiseaseFamilial Prion DiseaseGenetic Disease PathologyGenetic DisordersPrion Protein MisfoldingRare Disease GeneticsAutosomal Dominant InheritanceAutosomal Dominant Prion InheritanceCreutzfeldt-jakob Disease PathologyGenetic Prion Protein MutationsMutationPoint Mutation AnalysisPoint Mutation EffectsPoint Mutations
We report the first Japanese case of familial Creutzfeldt-Jakob disease (CJD) with the heterozygous point mutation at codon 200 of the prion protein gene. This suggests that the mutation is not race-specific. The clinical and pathologic features of this case are not different from those of sporadic CJD without point mutations. Some healthy members of the family also carry the same mutation in the autosomal dominant inheritance expression.