Table 1.
Summary of Data
| Gene | Mutation | Number of cases | Age/ Gender | Average duration | AMYG | CG | MFG | SN | PAC | PHG LGN | LC | CBM |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PS-1 | C410Y | 8 | 58 /4 M | 14 | 3 /4 | 1 /4 | 2 /7 | 0 /4 | 3 /4 | 2 /6 | 0 /3 | 0 /3 |
| PS-1 | A246E | 13 | 60 /9 M | 11 | 1 /6 | 0 /7 | 2 /10 | 0 /8 | 1 /6 | 1 /8 | 0 /6 | 0 /6 |
| PS-1 | E280A | 8 | 56 /3 M | 8 | 1 /8 | 1 /8 | ||||||
| PS-1 | M146L | 6 | 51 /2 M | 10 | 1 /1 | 1 /2 | 1 /4 | 1 /2 | 1 /1 | 1 /2 | 0 /2 | 0 /1 |
| PS-1 | M146I | 4 | NA | NA | 0 /4 | |||||||
| PS-1 | H163R | 4 | 55 /2 M | 12 | 0 /4 | |||||||
| PS-1 | E120D | 2 | 57 /2 M | 13 | 2 /2 | 0 /2 | 2 /2 | |||||
| PS-1 | E120K | 2 | 49 /2 M | 10 | 0 /2 | |||||||
| PS-1 | M139I | 2 | 42 /2 M | 4 | 0 /2 | |||||||
| PS-1 | I143F | 2 | 61 /0 M | 6 | 0 /2 | |||||||
| PS-1 | G209V | 2 | 48 /1 M | 7 | 2 /2 | 0 /2 | 0 /2 | |||||
| PS-1 | A260V | 2 | 58 /0 M | 1 /1 | 1 /1 | |||||||
| PS-1 | L250S | 2 | 53 /0 M | 7 | 1 /2 | |||||||
| PS-1 | L286V | 1 | 61 /1 M | 8 | 1 /1 | 1 /1 | 1 /1 | 1 /1 | 1 /1 | 0 /1 | 1 /1 | 0 /1 |
| PS-2 | N141I | 7 | 60 /4 M | 14 | 0 /1 | 1 /1 | 1 /7 | 0 /1 | ||||
| APP | V7171 | 6 | 61 /1 M | 8 | 0 /6 | |||||||
| APP | V717G | 1 | 61 /1 M | 21 | 0 /1 | |||||||
| APP | V717F | 2 | 51 /0 M | 7 | 1 /1 | 1 /2 | 0 /2 | 0 /1 | 0 /1 | |||
| TOTAL | FAD | 74 | 56 /34 M | 10.3 | 12 /19 | 6 /25 | 9 /66 | 2 /15 | 8 /18 | 4 /18 | 1 /12 | 0 /11 |
| Sporadic AD | NA | 12 | 74 /6 M | 9 | 2 /12 | 1 /10 | 0 /10 | 0 /10 | 1 /12 | 0 /10 | 0 /5 | 0 /8 |
| DLB | NA | 8 | 72 /5 M | 8 | 6 /6 | 6 /6 | 6 /8 | 8 /8 | 6 /6 | 7 /8 | 1 /3 | 0 /6 |
| CTRL | NA | 25 | 71 /15 M | 0 | 0 /25 | 0 /10 | 0 /25 |
Age = Age at death; Duration = Disease duration in years
Amyg, amygdala; CG, cingulate gyrus; MFG, middle frontal gyrus; SN, substantia nigra; PAC, periamygdaloid cortex; PHG LGN, parahippocampal gyrus at the level of the lateral geniculate nucleus; LC, locus ceruleus; CBM, cerebellar cortex; M, male; F, female. In each brain region the numerator indicates the number of cases with Lewy bodies. The denominator indicates the number of cases where tissue was available for examination.