Table 2 Demographic data on studied cases
Genetic diagnosis | Cases | Neuropathology | Age (yr) | Sex | PMD (hr) | RIN (a.u) | Fixed hemibrain (g) | Genetic variant |
|---|---|---|---|---|---|---|---|---|
Controls | 1 | 73 | M | 10 | 6,6 | 508 | ||
2 | 84 | M | 15,5 | 5,3 | N/A | |||
3 | 70 | M | 31 | 5,6 | 765 | |||
4 | 76 | F | 28 | 4,8 | 580 | |||
5 | 86 | F | N/A | 5,1 | 540 | |||
6 | 79 | M | N/A | 6,3 | 675 | |||
7 | 69 | M | 6 | 6,9 | 632 | |||
8 | 60 | F | 28 | 6,8 | 788 | |||
FTLD, sporadic | 9 | FTLD-TDP Type A | 84 | M | 25 | 4,4 | 614 | |
10 | FTLD-TDP Type A | 42 | M | 37 | 5,7 | 684 | ||
11 | FTLD-TDP Type C | 86 | M | 44 | 4,8 | 504 | ||
12 | FTLD-TDP | 67 | F | 22 | 6,3 | 495 | ||
13 | FTLD-TDP Type C | 68 | M | N/A | 2,5 | 430 | ||
14 | FTLD-TDP Type C | 72 | M | 16 | 5,8 | 452 | ||
15 | FTLD-TDP Type B | 53 | M | 5 | 8 | 600 | ||
16 | FTLD-TDP Type B | 77 | M | 17 | 5,5 | 378 | ||
17 | FTLD-FUS | 35 | M | 64 | 5,5 | N/A | ||
18 | FTLD-FUS | 59 | M | 30 | 6,6 | 430 | ||
19 | FTLD-FUS | 44 | M | 11 | 5,7 | 504 | ||
20 | FTLD-FUS | 35 | F | 17 | 5,9 | 495 | ||
21 | FTLD-FUS | 54 | M | 18 | 4,8 | 424 | ||
FTLD, GRN | 22 | FTLD-TDP Type A | 71 | M | 23 | 3 | 556 | c.813_816del |
23 | FTLD-TDP Type A | 69 | F | 39 | 3,8 | 370 | c.1494_1498del | |
24 | FTLD-TDP Type A | 60 | F | N/A | 3,7 | 200 | c.1494_1498del | |
25 | FTLD-TDP Type A | 65 | F | N/A | 5,9 | N/A | c.619dup | |
26 | FTLD-TDP Type A | 67 | M | 22 | 3,4 | 608 | c.813_816del | |
27 | FTLD-TDP Type A | 69 | M | 18,5 | 7 | 166 | c.1494_1498del | |
28 | FTLD-TDP Type A | 78 | F | 20 | 4 | 420 | N/A | |
29 | FTLD-TDP Type A | 75 | M | 21 | 5,3 | 419 | c.1157G > A | |
30 | FTLD-TDP Type A | 73 | M | 10 | 5,6 | 456 | Complete deletion | |
31 | FTLD-TDP Type A | 86 | F | 5,5 | 6,8 | 388 | Complete deletion | |
FTLD, C9ORF72 | 32 | FTLD-TDP | 59 | M | 51 | 6,4 | N/A | |
33 | FTLD-TDP Type B | 42 | M | 10 | 3,2 | N/A | ||
34 | FTLD-TDP Type B | 40 | F | 48 | 4,5 | N/A | ||
35 | FTLD-TDP Type B | 63 | M | 13 | 5,2 | 762 | ||
36 | FTLD-TDP | 90 | M | 40 | 4,4 | N/A | ||
37 | FTLD-TDP | 62 | M | N/A | 5,1 | 541 | ||
38 | FTLD-TDP Type B | 69 | M | 8,5 | 4,4 | N/A | ||
39 | FTLD-TDP Type B | 65 | M | 20 | 5,3 | 400 | ||
40 | FTLD-TDP Type B | 62 | F | 5,5 | 7,6 | 258 | ||
41 | FTLD-TDP Type B | 59 | M | 8,5 | 6 | 438 | ||
FTLD, MAPT | 42 | FTLD-Tau | 48 | F | 44,5 | 6,1 | N/A | P301L |
43 | FTLD-Tau | 54 | F | N/A | 7,8 | N/A | S305S | |
44 | FTLD-Tau | 43 | M | 6 | 4,8 | N/A | P301L | |
45 | FTLD-Tau | 65 | F | 30,5 | 3,4 | 315 | P301L | |
46 | FTLD-Tau | 66 | M | 30 | 5,9 | N/A | P301L | |
47 | FTLD-Tau | 85 | F | 21 | 5 | 360 | P332S | |
AD | 48 | AD | 79 | F | 48 | 4,7 | 474 | |
59 | AD | 73 | F | 26 | 4,7 | 460 | ||
50 | AD | 55 | F | N/A | 4,8 | 416 | ||
51 | AD | 75 | M | 30 | 4,1 | 529 | ||
52 | AD | 74 | M | 10 | 3 | N/A | ||
53 | AD | 63 | M | 18 | 6,1 | 366 | ||
54 | AD | 61 | M | 23 | 7 | 414 | ||
55 | AD | 62 | M | 10 | 6 | 435 |