Abstract:
Prion diseases are highly contagious, rapidly progressive, and extremely life-threatening
neuronal condition. CJD is the prime example of prion disease. Many cases of CJD have
been reported up till now. It can be acquired, inherited or sporadic in nature. sCJD
accounts for the highest prevalence globally i.e., 85% of the cases, gCJD encompasses
10-15% of the cases whereas iCJD cases include 1-2%. Its long incubation period (10-12
years) and short disease duration (3-12 months) makes it difficult to diagnose, which has
contributed to higher death toll since its occurrence. World organizations are strictly
monitoring CJD cases, in order to curtail the spread of this fatal disease but they are far
behind in eradicating it completely. Hence it is imperative to identify CJD sources to
reduce the number of cases. Therefore, this present research is the first initiative to assess
the prevalence of CJD in Pakistani population. Results of this study indicated absence of
mutation at codon 200 in the participants under study. Most prevalent genotype were
M129-E200 (71%) and V129-E200 (29%) whereas M129-K200 and V129-K200 were
absent in the participants. In parallel study a survey encompassing questions related to
cognitive impaired just like CJD was also carried out to assess public knowledge
regarding it. Results indicated that educated groups lacked knowledge in theoretical as
well as non-theoretical aspects of CJD. This study is highly significant as it provides
preliminary data on the susceptible cases of CJD and proof that the public knowledge
also corresponds to the data gathered by genetic screening
