Table 1 Pathological and clinical characteristics of FTD, AD and DLB patients used in FLNC brain expression studies
DR number | Gender | Age at onset (years) | Age at death (years) | Family History | Clinical diagnosis | Mutation | Pathological diagnosis |
|---|---|---|---|---|---|---|---|
DR287.1 | F | 65 | 71 | F | FTD | GRN - p.A89Vfsa41 | FTLD-TDP type A |
DR2.3a | F | 63 | 71 | F | FTD | GRN - p.0(IVS1 + 5G > C) | FTLD-TDP type A |
DR8.1 | F | 62 | 68 | F | FTD | GRN - p.0(IVS1 + 5G > C) | FTLD-TDP type A |
DR25.5a | M | 70 | 73 | F | FTD | GRN - p.0(IVS1 + 5G > C) | FTLD-TDP type A |
DR27.1 | F | 58 | 63 | F | FTD | GRN - p.0(IVS1 + 5G > C) | FTLD-TDP |
DR28.1 | M | 56 | 62 | F | FTD | GRN - p.0(IVS1 + 5G > C) | FTLD-TDP type A |
DR25.1 | F | 69 | 75 | F | FTD | GRN - p.0(IVS1 + 5G > C) | FTLD-TDP type A |
DR40.1 | F | 44 | 56 | F | FTD | VCP - p.R159H | FTLD-TDP type D |
DR40.7 | M | 49 | 57 | F | FTD | VCP - p.R159H | FTLD-TDP |
DR7.4 | M | 63 | 68 | F | FTD | VCP - p.R159H | FTLD-U |
ADR1 | M | 52 | 62 | F | FTD | FLNC - p.V831I | Pick’s disease |
DR439.1 | M | 54 | 69 | F | FTD | C9Orf72 - G4C2 expansion | FTLD-TDP type B |
DR29.1a | F | 50 | 55 | F | FTD | C9Orf72 - G4C2 expansion | FTLD-UPS |
DR14.1a | M | 56 | 60 | F | FTD | C9Orf72 - G4C2 expansion | FTLD-TDP type B |
DR386.1 | M | 72 | 83 | S | MXD | unknown | FTLD-TDP and AD |
DR189.1 | M | 47 | 50 | F | FTD | unknown | FTLD-TDP type B |
DR87.1 | F | 79 | 88 | S | FTD | unknown | FTLD TDP |
DR864.1 | M | 59 | 62 | S | FTD - ALS | unknown | FTLD-TDP type B |
DR102.1a | F | 72 | 79 | S | FTD | unknown | FTLD-TDP |
DR246.1a | M | 62 | 72 | F | DLB | unknown | LBD |
DR865.1 | M | 75 | 86 | U | AD | unknown | AD (III-IV Braak) |
DR39.1a | F | 61 | 75 | F | AD | APP - c.-369C/G | AD-CAA |
DS1.1a | - | - | - | S | Down Syndrome | 47XX,+21 or 47XY,+21 | AD-CAA |