Table 2.
Frequency of the pathogenic GGGGCC hexanucleotide repeat expansion of the C9ORF72 gene in patients diagnosed with familial ALS and familial FTD classified by region*
| Origin | Familial ALS
|
Familial FTD
|
||||
|---|---|---|---|---|---|---|
| n | Carriers (%) | 95% CI | n | Carriers (%) | 95% CI | |
| Europe: | ||||||
| Finnish | 112 | 52 (46·4%) | 37·0–56·1 | 27 | 13 (48·1%) | 28·7–68·0 |
| Swedish | - | - | - | 1 | 1 (100·0%) | 2·5–100·0 |
| English | 98 | 45 (45·9%) | 35·8–56·3 | 170 | 28 (16·5%) | 11·2–22·9 |
| Irish | 1 | 1 (100·0%) | 2·5–100·0 | - | - | |
| German | 69 | 15 (21·7%) | 12·7–33·3 | 29 | 4 (13·8%) | 3·9–31·7 |
| Dutch | - | - | - | 116 | 30 (25·9%) | 18·2–34·8 |
| French | - | - | - | 50 | 22 (44·0%) | 30·0–58·7 |
| Italian | 90 | 34 (37·8%) | 27·8–48·6 | - | - | - |
| Sardinian | 19 | 11 (57·9%) | 33·5–79·7 | 7 | 1 (14·3%) | 0·4–57·9 |
| Total (Europe) | 389 | 158 (40·6%) | 35·7–45·7 | 400 | 99 (24·8%) | 20·6–29·3 |
| United States: | ||||||
| White | 163 | 59 (36·2%) | 28·8–44·1 | - | - | - |
| Total (US) | 163 | 59 (36·2%) | 28·8–44·1 | - | - | - |
| Global: | ||||||
| Middle Eastern | 2 | 0 (0·0%) | 0·0–84·2 | - | - | - |
| Israeli | 14 | 3 (21·4%) | 4·7–50·8 | - | - | - |
| Asian | 20 | 1 (5·0%) | 0·1–24·9 | 3 | 2 (66·6%) | 9·4–99·2 |
| Total | 588 | 221 (37·6%) | 33·7–41·6 | 403 | 101 (25·1%) | 20·9–29·6 |