Table 3.
Clinical and Neuropathological Characteristics of PSEN 2 Mutation (N141I) Cases
| Family | Age at Onset, y |
Age at Death, y |
Duration, y | APOE Genotype |
Sex | Braak stage |
Amygdala (SNCA) |
Cingulate Gyrus (SNCA) |
Neocortex (SNCA) |
Substantia Nigra (H&E) |
Substantia Nigra (SNCA) |
Medulla (SNCA) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 62 | 72 | 10 | N/A | Female | V-C | + | NA | − | + | + | − |
| 1 | 65 | 75 | 10 | 3/3 | Male | V-C | + | NA | NA | − | + | − |
| 1 | 68 | 78 | 10 | 3/3 | Female | V-C | − | − | − | − | − | NA |
| 1 | 73 | 78 | 5 | 2/3 | Female | III-C | + | − | − | − | − | − |
| 2 | 46 | 55 | 9 | 2/3 | Female | V-C | + | − | − | − | − | − |
| 2 | 49 | 57 | 8 | 3/3 | Male | V-C | − | − | − | − | − | + |
| 2 | 60 | 75 | 15 | 3/3 | Female | VI-C | + | − | − | − | + | NA |
| 3 | 49 | 55 | 6 | 3/4 | Male | V-C | + | − | − | − | − | − |
| 3 | 56 | 74 | 18 | 3/3 | Male | VI-C | + | + | + | − | + | + |
| 4 | 41 | 51 | 10 | 3/3 | Female | V-C | − | − | − | − | NA | − |
| 5 | 54 | 72 | 18 | 3/4 | Male | VI-C | − | − | − | − | − | NA |
| 6 | 55 | 69 | 6 | 3/4 | Male | V-C | + | + | − | − | + | + |
| 7 | 58 | 80 | 22 | 3/3 | Female | VI-C | + | + | NA | − | + | NA |
| 8 | 62 | 69 | 7 | 3/3 | Male | V-C | − | − | − | − | − | − |
Abbreviations: APOE, apolipoprotein E; H & E, hematoxylineosin; NA, not available; SNCA, α-synuclein; +, presence; −, absence