Familial Creutzfeldt-Jakob disease / 临床神经病学杂志

ABSTRACT

Objective To identify the clinical characteristic of familial Creutzfeldt-Jakob disease(fCJD) in one pedigree with four cases in two-generation and to investigate its pathogenetic mechanism.Methods The pedigree was investigated in the fCJD kindred,protein capture assay was used to do quantitative analysis of 14-3-3 protein in the cerebrospinal fluid.Types of PrP gene mutation were studied by polymerase chain reaction(PCR) and DNA sequence analysis.Results(1) The onset age during four cases in two-generation was lower than the sporadic CJD and it tended to go down by generations.(2) The 14-3-3 protein level in the index case's cerebrospinal fluid was 125 ng/ml,which was higher than intersection point by 13.9 times.(3) In the index case,inserting mutation in site 231 of PRNP was induced by an adenine insertion between base 788 and 789.(4) No PrP gene mutation was found in the index case's younger brother and daughter.Conclusions The fCJD is identified in the index case,which is caused by inserting mutation in the site 231 of PRNP.There is no significant difference in the clinical manifestations between fCJD and sporadic CJD.However,the onset age of fCJD is lower than the sporadic CJD and patients from the same pedigree die at familiar ages.