Table 1:
Comparison of baseline characteristics between symptomatic mutation carriers and non mutation carriers. Description: p values below 0.05 are italicized.
| Symptomatic mutation carriers (n=118, 35.9%) | Non mutation carriers (n=211, 64.1%) | p value | |
|---|---|---|---|
| Age (years), mean (SD) | 46.1 (10.0) | 38.2 (11.4) | <0.001 |
| Sex (female), n (%) | 56 (47.5) | 87 (41.2) | 0.27 |
| Education (years), mean (SD) | 13.5 (3.4) | 14.7 (2.9) | 0.001 |
| At least one NEF, n (%) | 69 (65.1) | 47 (25.3) | <0.001 |
| Age at onset (years), mean (SD) | 42.6 (8.8) | na | na |
| Disease duration (years), mean (SD) | 3.7 (2.9) | na | na |
| CDR global, n (%) | 0.5, 78 (66.1) : 1, 28 (23.7) : 2, 7 (5.9) : 3, 5 (4.2) | 0, 196 (92.9) : 0.5, 15 (7.1) | <0.001 |
| CDR-SB, mean (SD) | 3.8 (4.0) | 0.07 (0.27) | <0.001 |
| MMSE, mean (SD) | 22.5 (7.0) | 29.0 (1.3) | <0.001 |
| Mutated gene, n (%) | PSEN1, 97 (82.2) : APP, 19 (16.1) : PSEN2, 2 (1.7) | na | na |
| APOE ε4 carrier, n (%) | 34 (29.3) | 59 (29.1) | 0.96 |
Abbreviations: SD=standard deviation; NEF=neurological examination finding; CDR=Clinical Dementia Rating; SB=Sum of Boxes; MMSE=mini mental state examination; APOE=gene encoding Apolipoprotein.