Table 1.
Clinical and Genetic Details on 54 Cases of Alzheimer’s Disease Because of Mutations in PS-1 Gene
| Case | Patient code | PS-1 mutation | Sex | Age at onset | Age at death | Duration | Brain weight | ApoE genotype | Additional clinical features |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 6866 | T116R | M | 35 | 43 | 8 | n.a. | E3/E4 | Nil |
| 2 | 22290 | E120D | M | 53 | 62 | 9 | 1239 | E3/E3 | Language loss |
| 3 | 22466 | E120D | M | 34 | 51 | 17 | 1206 | E3/E3 | Seizures, rigidity, negative cogwheel |
| 4 | A74/93 | E120K | M | 36 | 44 | 8 | 548* | E3/E3 | Nil |
| 5 | A141/93 | ΔE4 truncation | M | 36 | 54 | 18 | 963 | E3/E3 | Myoclonus |
| 6 | A293/94 | M139V | M | 36 | 42 | 6 | 1080 | E3/E4 | Myoclonus, seizures, RTA with loss of consciousness at 28 years |
| 7 | 176/81 | M139V | F | 43 | 53 | 10 | 922 | E3/E4 | Myoclonus, seizures |
| 8 | 734 | M139I | M | 38 | 41 | 3 | 553* | E2/E3 | Seizures |
| 9 | 773 | M139I | M | 38 | 43 | 5 | 1210 | E3/E3 | Nil |
| 10 | A236/91 | I143F | F | 55 | 61 | 6 | 510* | E3/E3 | Nil |
| 11 | 4434 | I143T | F | 34 | 39 | 5 | n.a. | E3/E3 | Myoclonus, epilepsy, toxic hepatitis |
| 12 | 4268 | M146I | M | 43 | 51 | 8 | n.a. | E3/E3 | Anxiety |
| 13 | 95-124 | M146L | M | 45 | 51 | 6 | 840 | E3/E3 | Delusions, myoclonus, hallucinations, Parkinsonism |
| 14 | V1501-92 | M146V | F | 39 | 43 | 4 | n.a. | E3/E3 | Myoclonus, seizures |
| 15 | 178 | H163R | M | 40 | 44 | 4 | 1200 | E3/E3 | Nil |
| 16 | 313 | H163R | F | 43 | 48 | 5 | 370** | E3/E4 | Nil |
| 17 | 3098 | H163R | F | 51 | 62 | 11 | 790 | E3/E3 | Nil |
| 18 | A77 | H163R | M | 50 | 65 | 15 | 1080 | E3/E3 | Language loss, seizures, quadriplegia |
| 19 | A80 | H163R | F | 38 | 62 | 24 | n.a. | E3/E3 | Language loss, clumsiness |
| 20 | 97/19 | S169L | F | 32 | 38 | 6 | 910 | E3/E3 | Myoclonus, seizures |
| 21 | 12829 | G209V | M | 39 | 45 | 6 | 1150 | E3/E3 | Myoclonus, seizures, language loss |
| 22 | 14338 | G209V | M | 39 | 49 | 10 | 940 | E2/E3 | Myoclonus, seizures, language loss |
| 23 | 20399 | G209V | F | 45 | 50 | 3 | 1146 | E3/E3 | Myoclonus, language loss |
| 24 | 22129 | G209V | F | 36 | 55 | 10 | 770 | E3/E3 | Seizures |
| 25 | 22203 | G209V | M | 56 | 40 | 4 | 1179 | E3/E3 | Seizures |
| 26 | X97-63 | M233T | F | 31 | 39 | 8 | n.a. | E3/E4 | Seizures |
| 27 | 305 | A246E | M | 54 | 60 | 6 | 950 | E3/E4 | Nil |
| 28 | 306 | A246E | F | 50 | 56 | 6 | 800 | E3/E4 | Nil |
| 29 | 593 | A246E | M | 55 | 70 | 15 | 1290 | E3/E3 | Nil |
| 30 | 95-9 | A246E | M | – | 65 | – | 880 | E3/E3 | Nil |
| 31 | 40-95 | A246E | F | 43 | 66 | 23 | 800 | E3/E3 | Partial complex seizures since 26 years, language loss |
| 32 | L971 | A246E | F | 52 | 67 | 15 | 850 | E3/E4 | Nil |
| 33 | 183/89 | L250S | F | 56 | 63 | 7 | n.a. | E3/E4 | Myoclonus, language loss, hallucinations, visual agnosia |
| 34 | 14/95 | L250S | F | 49 | 55 | 6 | n.a. | E3/E4 | Myoclonus, ophthalmoplegia, extrapyramidal signs language loss, visual agnosia |
| 35 | 19582 | A260V | F | 38 | 55 | 17 | 323** | E3/E3 | Myoclonus, seizures, language loss |
| 36 | 22239 | A260V | F | 41 | 60 | 19 | 372* | E3/E3 | Bilateral spasticity, language loss |
| 37 | 3650 | P264L | M | 34 | 49 | 15 | 1300 | E3/E3 | Myoclonus, rigidity, language loss |
| 38 | 45643 | R269H | M | 46 | 55 | 9 | 1180 | E4/E4 | Myoclonus, hallucinations |
| 39 | 2968 | E280A | F | 48 | 58 | 10 | 900 | E3/E3 | Seizures, early gait disturbance |
| 40 | 2965 | E280A | M | 54 | 62 | 8 | 900 | E3/E3 | Abnormal reflexes, pyramidal signs |
| 41 | 2761 | E280A | M | 50 | 55 | 5 | 1000 | E3/E3 | Pyramidal signs |
| 42 | 2786 | E280A | F | 39 | 48 | 9 | 1020 | E3/E4 | Myoclonus, seizures, tremor, dystonia |
| 43 | 3396 | E280A | F | 41 | 44 | 3 | 1100 | E3/E3 | Myoclonus, seizures, pyramidal signs |
| 44 | 2970 | E280A | F | 53 | 61 | 8 | 940 | E3/E3 | Nil |
| 45 | 3156 | E280A | F | 55 | 61 | 6 | 1020 | n.a. | Nil |
| 46 | 3153 | E280A | F | 54 | 61 | 7 | 800 | E4/E4 | Nil |
| 47 | 269/81 | E280G | F | 48 | 53 | 5 | 762 | E3/E3 | Seizures |
| 48 | C32 | G384A | M | 36 | 48 | 12 | n.a. | E3/E3 | |
| 49 | 6531 | L286V | M | 53 | 61 | 8 | 1200 | E3/E3 | Nil |
| 50 | L963 | C410Y | F | 45 | 60 | 15 | 840 | n.a. | Parkinsonism |
| 51 | L929 | C410Y | M | 42 | 47 | 5 | 1300 | E3/E3 | Parkinsonism |
| 52 | L93127 | C410Y | F | 56 | 81 | 25 | 850 | E3/E3 | Parkinsonism |
| 53 | L8926 | C410Y | M | 46 | 55 | 9 | 980 | E2/E3 | Parkinsonism |
| 54 | L933 | C410Y | M | 51 | 59 | 8 | 980 | E3/E3 | Myoclonus, hallucinations |
*Denotes weight of half-brain only.
**Denotes weight of half-hemisphere only.