Table 2.
Clinical phenotype of Volga German families with N141I PSEN2 mutation
| Family | Number affected* | Confirmed PSEN2 mutation | Mean age onset ± SD (range) | Mean age death ± SD (range) | Mean duration (years) ± SD (range) | Autopsya | Medical records available | First signs and symptoms | Psychosis | Seizures |
|---|---|---|---|---|---|---|---|---|---|---|
| BDR | 5 | 1 | 40 ± 1.4 (39–41) | 50.8 ± 2.3 (47–53) | 9 ± 1.4 (8–10) | 1 | 2 | 1 memory problems 1 personality change | 1 psychosis | 2 |
| BE | 2 | 2 | 61.0 ± 1.4 (60–62) | 69 | 7 | 1 | 2 | 2 memory problems | na | na |
| E | 8 | 3 | 55.0 ± 3.9 (50–60) | 67.2 ± 5.9 (58–76) | 10.0 ± 3.1 (6–14) | 3 | 7 | 4 memory problems 4 cognitive problems 1 behavioural change 2 vision problems | na | na |
| H | 7 | 5 | 60.3 ± 5.3 (56–68) | 72.3 ± 9.3 (60–80) | 16.5 ± 7.8 (11–22) | 3 | 5 | 4 memory problems 2 cognitive problems | 1 psychosis 1 delusions | 1 |
| HB | 20 | 12 | 59.9 ± 8.3 (49–75) | 72.3 ± 9.0 (58–88) | 10.9 ± 3.8 (4–19) | 7 | 13 | 13 memory problems | 4 hallucinations 2 delusions | 2 |
| HD | 17 | 8 | 52.2 ± 6.2 (45–70) | 62.6 ± 7.1 (53–77) | 92. ± 3.8 (3–15) | 7 | 12 | 10 memory problems 4 cognitive problems | 4 hallucinations 1 delusions | 3 |
| KSS | 2 | 1 | 57.5 ± 3.5 (55–60) | 73.0 ± 5.7 (69–77) | 15.5 ± 1.5 (14–17) | 1 | 1 | 1 memory problems | 1 hallucinations | 0 |
| KYL | 5 | 3 | 52.8 ± 14.9 (44–75) | 62.8 ± 11.5 (52–78) | 6.3 ± 3.5 (3–10) | 2 | 3 | 3 memory problems 1 depression | 1 hallucinations | 1 |
| R | 26 | 14 | 49.5 ± 4.3 (40–56) | 57.4 ± 7.6 (43–74) | 10.3 ± 4.8 (5–23) | 8 | 13 | 10 memory problems 2 cognitive problems 1 vision problem 1 personality change 1 seizures | 1 hallucinations 1 delusions | 8 |
| VQT | 3 | 1 | 46 | 70 | no data | 0 | 1 | 1 cognitive problems | 1 hallucinations | 0 |
| W | 6 | 4 | 52.0 ± 4.9 (47–58) | 67.4 ± 4.9 (62–73) | 14.6 ± 8.1 (5–25) | 2 | 5 | 5 memory problems 2 cognitive problems | 1 hallucinations 1 psychosis | 3 |
| Total 11 | 101 | 54 | 53.7 ± 7.8 (39–75) n = 85 | 64.2 ± 9.8 (43–88) n = 75 | 10.6 ± 4.8 (3–25) n = 62 | 35 | 64 | 53 memory problems 15 cognitive problems 3 vision problems 2 personality changes 1 behavioural change 1 depression 1 seizures | 13 hallucinations 5 delusions 3 ‘psychosis’ 21/64 (33%) | 20 20/64 (31%) |
na = not applicable. *Number affected: demented persons with the N141I mutation by genotyping or who had a child with the mutation.
a Autopsy: total autopsies in families of demented persons with and without genotyping.