Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob disease.

Abstract Eight cases of rare genetic Creutzfeldt–Jakob disease (gCJD) with a mutation T188K in PRNP have been identified and diagnosed genetically in China since 2006. Among the eight cases, the median age of disease onset was 58 years old (ranging from 39 to 76 years old). Progressive dementia and pyramidal or extrapyramidal dysfunction appeared in all cases and lasted during the entire clinical course. Myoclonus and visual or cerebellar disturbances were also frequently observed. The median duration of disease was 3 months. Cerebral MRI findings revealed high caudate and putamen signals in four out of eight cases. CSF in six out of eight patients tested positive for the 14-3-3 protein. Only one case showed periodic sharp-waves (PSW) in EEG. Most cases lacked a family history of associated diseases, though one patient’s mother died of a neurologic disorder without a definite diagnosis. Our data reveal that Chinese T188K gCJD cases have clinical characteristics similar to that of sporadic CJD (sCJD). Compared with other inherited prion disease-associated mutations in China, the genetic frequencies of T188K in PRNP of Han-Chinese are relatively high.