Table 2:
ADAD-control | ADAD-presymptomatic | ADAD-symptomatic | |
---|---|---|---|
n | 9 | 5 | 4 |
Mutation | 0/9 | 5/5 | 4/4 |
Mutation type |
PSEN1 (A431E; 3/5) PSEN1 (I180F; 1/5) APP (V717I; 1/4) |
PSEN1 (A431E; 3/4) APP (V717I; 1/4) |
|
Diagnosis | 0/9 | 0/5 | 4/4 |
CASI (std, range) | 95.3 (1.8; 92–97.7) | 95.0 (4.2; 90–99) | 74.9 (11.8; 62.8–86.8) |
CDR (std, range) | 0 (0, 0) | 0 (0, 0) | 0.75 (0.3; 0.5–1) |
Age (std, range) | 33.4 (12.2; 19–58) | 30 (4.5; 22–33) | 43.5 (1.3; 42–45) |
Gender | 5 male 4 female |
1 male 4 female |
3 male 1 female |
Note: ADAD, autosomal-dominant Alzheimer’s disease; ADAD-control: control participants not carrying the mutation, but genetically related to mutation carriers; ADAD-presymptomatic: presymptomatic mutation carriers (Washington University Clinical Dementia Rating Scale [CDR] scores of 0); ADAD-symptomatic: symptomatic mutation carriers; std. standard deviation; CASI, Cognitive Abilities Screening Instrument (Teng et al., 1994); PSEN1: Presenilin-1 protein (gene); APP: Amyloid-β Precursor Protein (gene)