Table 2 Demographic, genetic and clinicopathological data of annexinopathy cases
From: Annexin A11 aggregation in FTLD–TDP type C and related neurodegenerative disease proteinopathies
Case | Group | Onset | Age | Sex | Clinical diagnosis | Neuropathological diagnosis | Genetics | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Primary | Secondary | Tertiary | Type | Variant | APOE | ||||||
1 | Vacuolar annexinopathy | 65–70 | 70–75 | M | PSP/FTD-NOS | FTLD–UPS | ADNC, low | ANXA11 p.P75S | E3/E3 | ||
2 | ALS with annexinopathy | 60–65 | 60–65 | M | ALS (Definite) | ALS | PART | B | ANXA11 p.G38R | E2/E3 | |
3 | FTLD–TDP | 60–65 | 65–70 | F | svPPA | FTLD–TDP | AGD | ADNC, low | A | GBA p.N409S | E3/E3 |
4 | FTLD–TDP | 60–65 | 70–75 | F | bvFTD/ALS (Definite) | FTLD–TDP | LBD | PART | B | C9orf72 expansion | E3/E4 |
5 | FTLD–TDP | 71 | > 90 | M | bvFTD | FTLD–TDP | PART | A | E3/E3 | ||
6 | ALS | 50–55 | 55–60 | M | ALS (Definite)/bvFTD | ALS | FTLD–TDP | ADNC, low | B | TBK1 p.R308* | E3/E4 |
7 | ALS | 70–75 | 70–75 | F | ALS (Probable) | ALS | FTLD–TDP | PART | B | C9orf72 expansion | E3/E4 |
8 | AD-LATE | 58 | 68 | M | AD Probable | ADNC, high | LATE-NC | LBD | E3/E3 | ||
9 | AD-LATE | 60 | 69 | F | AD Probable | ADNC, high | LATE-NC | LBD | n/a | ||
10 | AD-LATE | 59 | 72 | F | lvPPA | ADNC, high | LATE-NC | LBD | E3/E3 | ||
11 | AD-LATE | 59 | 74 | M | AD Probable | ADNC, high | LATE-NC | LBD | E3/E4 | ||
12 | AD-LATE | 59 | 75 | M | svPPA | ADNC, high | LATE-NC | E3/E3 | |||
13 | AD-LATE | 65 | 77 | F | AD Probable | ADNC, high | LATE-NC | LBD | E3/E4 | ||
14 | AD-LATE | 72 | 87 | F | AD Probable | ADNC, high | LATE-NC | LBD | E3/E4 | ||
15 | AD-LATE | 71 | > 90 | M | AD Probable | ADNC, high | LATE-NC | LBD | E4/E4 | ||
16 | FTLD–TDP | 45–50 | 50–55 | M | bvFTD | FTLD–TDP | C | C9orf72 expansion | E2/E2 | ||
17 | FTLD–TDP | 55 | 61 | F | svPPA/bvFTD | FTLD–TDP | C | E2/E3 | |||
18 | FTLD–TDP | n/a | 63 | M | svPPA | FTLD–TDP | C | E3/E4 | |||
19 | FTLD–TDP | 54 | 63 | M | svPPA | FTLD–TDP | PART | C | E3/E3 | ||
20 | FTLD–TDP | 58 | 63 | F | bvFTD | FTLD–TDP | ADNC, low | C | E3/E4 | ||
21 | FTLD–TDP | 55 | 64 | M | PPA-NOS | FTLD–TDP | C | E3/E3 | |||
22 | FTLD–TDP | 60 | 65 | M | bvFTD/svPPA | FTLD–TDP | ADNC, low | C | E3/E3 | ||
23 | FTLD–TDP | 52 | 65 | M | bvFTD/svPPA | FTLD–TDP | PSP | C | E2/E3 | ||
24 | FTLD–TDP | 53 | 66 | F | svPPA/bvFTD | FTLD–TDP | ADNC, low | C | E3/E3 | ||
25 | FTLD–TDP | 57 | 67 | F | bvFTD/svPPA | FTLD–TDP | ADNC, low | C | E3/E4 | ||
26 | FTLD–TDP | 62 | 68 | F | svPPA | FTLD–TDP | ADNC, low | C | E3/E3 | ||
27 | FTLD–TDP | 56 | 68 | M | svPPA/bvFTD | FTLD–TDP | PART | C | E2/E3 | ||
28 | FTLD–TDP | 59 | 69 | F | PPA-NOS | FTLD–TDP | Tauopathy | LBD | C | E3/E3 | |
29 | FTLD–TDP | 63 | 70 | M | svPPA/bvFTD | FTLD–TDP | ADNC, low | C | E3/E3 | ||
30 | FTLD–TDP | 59 | 70 | M | svPPA | FTLD–TDP | ADNC, low | C | E3/E3 | ||
31 | FTLD–TDP | 60 | 71 | M | svPPA | FTLD–TDP | ADNC, low | C | E3/E4 | ||
32 | FTLD–TDP | 62 | 72 | F | svPPA | FTLD–TDP | PART | C | E3/E3 | ||
33 | FTLD–TDP | 68 | 73 | M | bvFTD | FTLD–TDP | ADNC, low | CVD | C | E3/E3 | |
34 | FTLD–TDP | 65 | 73 | M | svPPA | FTLD–TDP | LBD | PART | C | E2/E3 | |
35 | FTLD–TDP | 65 | 73 | M | svPPA/bvFTD | FTLD–TDP | PART | C | E3/E3 | ||
36 | FTLD–TDP | 60 | 74 | F | svPPA/bvFTD | FTLD–TDP | PART | C | E3/E3 | ||
37 | FTLD–TDP | 66 | 74 | M | AD Probable | FTLD–TDP | ADNC, low | C | E3/E3 | ||
38 | FTLD–TDP | 67 | 76 | F | svPPA | FTLD–TDP | ADNC, low | C | E3/E4 | ||
39 | FTLD–TDP | 65 | 76 | F | svPPA | FTLD–TDP | CVD | C | E2/E2 | ||
40 | FTLD–TDP | 65 | 76 | M | bvFTD | FTLD–TDP | ADNC, low | CVD | C | E3/E4 | |
41 | FTLD–TDP | 67 | 77 | M | svPPA/bvFTD | FTLD–TDP | ADNC, low | C | E3/E3 | ||
42 | FTLD–TDP | 55 | 77 | M | bvFTD | FTLD–TDP | PART | C | E3/E3 | ||
43 | FTLD–TDP | 68 | 79 | M | AD Probable | FTLD–TDP | ADNC, low | C | E3/E3 | ||
44 | FTLD–TDP | 67 | 80 | M | AD Probable | FTLD–TDP | ADNC, low | C | E3/E4 | ||
45 | FTLD–TDP | 60–65 | 80–85 | M | bvFTD/AD Probable | FTLD–TDP | ADNC, low | C | ANXA11 p.G199S | E3/E3 | |
46 | FTLD–TDP | 79 | 81 | F | PPA-NOS | FTLD–TDP | ADNC, low | C | E2/E3 | ||
47 | FTLD–TDP | 72 | 82 | M | CVD/AD Possible | FTLD–TDP | ADNC, low | CVD | C | E4/E4 | |
48 | FTLD–TDP | 67 | 83 | M | svPPA/bvFTD | FTLD–TDP | LBD | ADNC, low | C | E3/E3 | |
49 | FTLD–TDP | 77 | 83 | M | CBS | FTLD–TDP | LBD | CVD | C | E3/E3 | |
50 | FTLD–TDP | 78 | 87 | F | AD Probable | FTLD–TDP | ADNC, low | LBD | C | E3/E4 | |