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Table 1 Demographic overview of study participants. The participant number, age, sex, PRNP genotype, total number of study visits at time of analysis, and scores on two basic assessments of daily and cognitive functioning. Corrected p values account for all 20 assessments performed. The “other” category includes four distinct mutations, two of which are of low penetrance and two of which are highly penetrant [7, 9]; to protect participant confidentiality, the exact mutations are not disclosed

From: Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease

  PRNPmutation carriers Non-carrier controls
N 27 16
Age at the first visit 44.2 ± 15.2 44.5 ± 12.7
Sex Male 10 5
Female 17 11
PRNPgenotype Wild type 0 16
E200K 12 0
D178N 7 0
P102L 4 0
Other 4 0
Number of completed study visits 1 visit 7 4
2 visits 9 9
3 visits 11 3
   PRNPmutation carriers Non-carrier controls pvalue pvalue (Bonferroni corrected)
Assessments MRC prion disease rating scale 20.0 ± 0.0 20.0 ± 0.0 1 1
Montreal cognitive assessment 27.7 ± 1.6 28.5 ± 1.7 0.20 1