Table 4.
Previously described susceptibility genes associated with AD/FTD (except APOE ɛ4)
| Patient ID | Form | AOO | Sex | Symptoms | Gene | Variant ID | Zygosity | Clinical significance | ACMG classification | MAF (non-neuro) | Patients | Controls | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P45 | F | 62 | f | Severe cognitive impairment | TREM2 | p.R47H c.140G > A rs75932628 | B | RF | VUS | 0.025 | 2/54 | 0/137 | [34] |
| P71 | S | 53 | m | Memory impairment, disorientation, amnestic and executive disabilities | |||||||||
| P26 | F | 65 | f | Behavioral changes, mixed aphasia, visuospatial disturbancy | ABCA7 | p.R1228C c.3682C > T rs201115102 | het | D | VUS | < 0.01 | 1/54 | 0/137 | - |
| P35 | S | 61 | m | Short-term memory impairment, visuospatial disturbancy, dyscalculia, apraxia | ABCA7 | p.D1957Y c.5869G > T | het | D | VUS | - | 1/54 | 0/137 | - |
| P75 | S | 61 | m | Vertical gaze pulsy, rigor, ataxia, severe memory impairment | ABCA7 | p.Y750* c.2250C > A rs757657653 | het | D | LP | < 0.01 | 1/54 | 0/137 | [33] |
| P33 | F | 64 | m | Cognitive deficit, visuospatial disorientation, | SORL1 | p.K2044R c.6131A > G | het | D | VUS | - | 1/54 | 0/137 | - |
From our biobanks, 55 healthy subjects and 82 patients without any neurodegenerative symptoms were selected as controls. F, familial; S, sporadic; AOO, age of onset; f, female; m, male; het., heterozygous; B, benign; RF, risk factor; D, damaging; P, pathogenic; LP, likely pathogenic; VUS, variants with uncertain significance; MAF, minor allele frequency