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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