Table 1.
Descriptives of the EU EOD Patient Cohorts
| FTD | FTD‐ALS | ALS | Total | |
|---|---|---|---|---|
| EU EOD cohorts and PI | 1,873 | 111 | 554 | 2,538 |
| Belgium (n = 783) | ||||
| Van Broeckhoven ( = Belgian discovery cohort) | 460 | 22 | 147 | 629 |
| Van Broeckhoven | 142 | 12 | 0 | 154 |
| Spain (n = 548) | ||||
| Clarimon | 76 | 7 | 92 | 175 |
| Pastor | 126 | 3 | 12 | 141 |
| Ruiz | 95 | 0 | 0 | 95 |
| Sanchez | 53 | 8 | 0 | 61 |
| Gelpi | 12 | 8 | 16 | 36 |
| Gómez‐Tortosa | 38 | 2 | 0 | 40 |
| Italy (n = 442) | ||||
| Borroni | 165 | 12 | 24 | 201 |
| IRCCS Brescia 01 | 110 | 0 | 0 | 110 |
| Nacmias | 74 | 5 | 0 | 79 |
| Frisoni | 48 | 1 | 0 | 49 |
| Fabrizi | 0 | 2 | 1 | 3 |
| Germany (n = 317) | ||||
| Diehl‐Schmid | 153 | 3 | 0 | 156 |
| Ramirez | 60 | 0 | 21 | 81 |
| Synofzik | 0 | 0 | 78 | 78 |
| Danek | 1 | 1 | 0 | 2 |
| Portugal (n = 195) | ||||
| Mendonça | 130 | 4 | 0 | 134 |
| Santana | 57 | 4 | 0 | 61 |
| Bulgaria (n = 134) | ||||
| Jordanova | 0 | 2 | 132 | 134 |
| Sweden (n = 60) | ||||
| Graff | 55 | 4 | 1 | 60 |
| Czech Republic (n = 30) | ||||
| Matěj | 18 | 8 | 4 | 30 |
| Greece (n = 26) | ||||
| Fraidakis | 0 | 1 | 25 | 26 |
| Austria (n = 3) | ||||
| Kovacs | 0 | 2 | 1 | 3 |
Of the 783 Belgian patients and 1,074 Belgian controls included in the present European study population, TBK1 mutation screening data on 629 patients and 1,044 control individuals were previously published as part of the Belgian discovery cohort [Gijselinck et al., 2015; Van Mossevelde et al., 2015]. Novel patients and control subjects reported in this study are part of the European replication cohort. Together, the Belgian discovery cohort and the European replication cohort constitute the European study population. P.I., principle investigator.