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Table 2 Summary of the 7 subjects with the PSEN1 A431E mutation

From: Distinct cerebrospinal fluid amyloid β peptide signatures in sporadic and PSEN1A431E-associated familial Alzheimer's disease

Case

APOE

Genotype

Relative agea

CDRb

MMSEc

1

3/3

-16

0

29

2

3/3

-1

0.5

27

3

3/3

-18

0

29

4

3/3

2

2

5

5

3/3

-22

0

30

6

2/3

-19

0

28

7

2/3

-15

0

29

  1. aRelative age is the number of years prior to the typical family-specific age of dementia diagnosis. Absolute age and gender are not shown to protect confidentiality with regard to subjects' identity and mutation status.
  2. bCDR is the Clinical Dementia Rating scale score (0 = asymptomatic, 0.5 is questionable dementia, 1 = mild dementia, 2 = moderate dementia, 3 = severe dementia.
  3. cMMSE is Mini-Mental State Examination score.