Table 5.
Clinical characteristics of EOAD and FTD gene mutation carriers
| Patient ID | Mutation | Sex | Age at onset (years) | Family history of dementia | # relatives with AD or memory problems | First clinical symptom(s) |
|---|---|---|---|---|---|---|
| 506 | APP p.Thr714Ile | M | 41 | Yes | 4 | Memory loss |
| 11323 | PSEN1 p.Asn135Ser | F | 34 | Yes | 2 | Memory loss |
| 9018 | PSEN1 p.Met146Leu | F | 41 | Yes | 2 | Memory and language |
| 711 | PSEN1 p.Gly206Ala | M | 52 | Yes | 2 | Memory loss |
| 15066 | PSEN1 p.Gly206Ala | M | 53 | Yes | 4 | Memory loss |
| 11967 | PSEN1 p.Gly206Ala | F | 63 | No | 0 | Memory loss and language |
| 10232 | PSEN1 p.Pro218Leu | F | 55 | Yes | 1 | Memory and vision loss |
| 15408 | PSEN1 p.Ile238Met | M | 60 | Yes | 4 | Memory and vision loss |
| 14915 | PSEN2 p.Ser130Leu | F | 52 | No | 0 | Memory loss |
| 8120 | PSEN2 p.Met174Val | F | 45 | Yes | 1 | Memory loss |
| 15229 | PSEN2 p.Phe183Ser | F | 46 | Adopted | unknown | Memory loss |
| 14330 | GRN p.Arg198Glyfs19X | M | 62 | No | 0 | Memory loss |
| 15625 | MAPT p.Arg406Trp | M | 50 | Yes | 5 | Memory loss |
| 9979 | C9ORF72 repeat expansion | M | 68 | Yes | 1 | Memory loss |
| 7391 | C9ORF72 repeat expansion | F | 69 | No | 0 | Memory and gait loss |
APP, amyloid precursor protein, PSEN1, presenilin 1, PSEN2, presenilin 2, GRN, progranulin, MAPT, microtubule associated protein tau, C9ORF72, chromosome 9 open reading frame 72.