Rare genetic Creutzfeldt-Jakob disease with T188K mutation: analysis of clinical, genetic and laboratory features of30 Chinese patients

Genetic human prion diseases include genetic or familial Creutzfeldt-Jakob disease (gCJD or fCJD), fatal familial insomnia (FFI) and Gerstmann-Sträussler-Scheinker syndrome (GSS). T188K gCJD was first described in Germany in 2000.1 The first Chinese patient with T188K gCJD was identified in 2009.2 By March 2016, 30 Chinese cases with T188K gCJD were identified and genetically diagnosed via national CJD surveillance programme. T188K gCJD is now the second-most frequent genetic prion disease among Chinese (next to FFI),3 however, is rarely reported in the other countries besides China.

All cases with 30 T188K gCJD in this report were Han-Chinese without sibship. The gender ratio (male to female) was 1:0.76. The onset ages of the patients varied from 40 to 85 years old, with the median age of 59 years. More patients (13 cases) were in the group of 50–59 years old, followed by those of 60–69 and...

from #ORL-AlexandrosSfakianakis via ola Kala on Inoreader http://ift.tt/2gYyEsK