Table 7.
List and clinical characteristics of multiple variant carriers.
| Patient | Diagnostic Group | FTLD Subtype | Disease Onset | FH | Sex | Study Group | Variants | ||
|---|---|---|---|---|---|---|---|---|---|
| 1 | FTLD | PPA | 68 | F | M | Belgium | SORL1 p.D2065V a | GGA3 p.K99R a |
- |
| 2 | AD | - | 68 | U | M | Belgium | SORL1 p.R1207X b | SORL1 p.D140N b | - |
| 3 | AD | - | 65 | U | M | Belgium | DNAJC6 p.M133L b | AGRN p.A897V a | - |
| 4 | AD | - | 61 | F | F | Belgium | PPT1 p.R48X b | GNPTG p.R66Q b | - |
| 5 | FTLD | PPA | 57 | F (low) * |
F | Italy | SORL1 p.S1167Y b | ABCA2 p.H1449P c | GPC1 p.R90W b |
| 6 | FTLD | PPA | 63 | AS | F | Italy | SORL1 p.R729W b | CTSA p.P330A b |
GGA3 p.P235L b |
| 7 | FTLD | bvFTD | 82 | F (low) * |
M | Italy | SORL1 V2097I a |
ABCA2 S1378F b | - |
| 8 | FTLD | - | 66 | F | M | Belgium | SORL1 p.S636T a | VPS39 p.V473M b | |
| 9 | FTLD | - | 49 | AS | F | Belgium | VPS52 p.Y508C b | VPS52 p.R578W b | - |
| 10 | FTLD | bvFTD + IBM | 70 | F | M | Belgium | AGRN p.R956H b | CD81 p.G129R b |
HGS p.L525V b |
| 11 | FTLD | PPA | 50 | F | M | Italy | ABCA2 p.H1449P c | ATP6V0D1 c.C817-2A c | - |
| 12 | FTLD | bvFTD | 59 | F (medium) * |
M | Italy | ABCA2 p.H1449P c | GGA2 p.L83I b |
- |
| 13 | FTLD | PPA | 60 | F (high) * |
M | Italy | AGRN p.V1691M b | ATP6V0D1 c.C817-2A c | - |
| 14 | FTLD | PPA | 54 | F (high) * |
M | Italy | DNM2 p.R318W b | ATP6V0D1 c.C817-2A c | - |
| 15 | DLB | - | 70 | F | M | Italy | GGA2 p.S39W c | GGA3 p.P40R b |
- |
| 16 | FTLD | bvFTD | 65 | F | M | Belgium | GGA2 p.R105G b | VPS39 p.F573L b |
- |
| 17 | FTLD | bvFTD | 39 | AS | F | Belgium | GNPTG p.R186W c | MGRN1 p.P67L c |
- |
| 18 | DLB | - | 78 | F | M | Belgium | NEU1 p.R397W b | TOM1 p.V67A b |
- |
bvFTD, behavioral variant FTD; PPA, primary progressive aphasia; IBM, inclusion body myopathy; FH, family history; F, positive family history; AS, apparently sporadic; U, unknown; * Fostinelli et al., 2018; a, 0.001 < gnomAD_NFE ≤ 0.01; b, 0 < gnomAD_NFE ≤ 0.001; c, gnomAD_NFE = 0. Previously reported variants and LOF variants are in underlined bold text.