Table 1. Mutation frequencies by clinical diagnosis and country.
Clinical diagnosis | ||||||
---|---|---|---|---|---|---|
Country | Cases (n) | FALS | FALS/FTD | SALS | SALS/FTD | FTD |
London clinic | 296 | 15/64 (23%) | 14/16 (87.5%) | 13/216 (6%) | ||
Other United Kingdom | 870 | 35/93 (37%) | 10/13 (77%) | 58/737 (7.9%) | 6/27 (22%) | 0 |
Sweden | 77 | 10/16 (63%) | 20/25 (80%) | 3/21 (14%) | 1/12 (8.3%) | 2/3 (67%) |
The Netherlands | 27 | 10/27 (37%) | ||||
Belgium | 22 | 16/19 (84%) | 3/3 (100%) | 0 | 0 | 0 |
Italy | 55 | 3/10 (30%) | 1/10 (10%) | 1/5 (20%) | 5/30 (17%) | 0 |
Total | 1347 | 89/229 (39%) | 48/67 (72%) | 75/979 (7.6%) | 12/69 (17%) | 2/3 (66%) |
Mutation frequencies of the expansion repeat in cases according to clinical diagnosis and country. The total number of cases screened is indicated in bold on the bottom line including subtotals and corresponding mutation frequency according to clinical diagnosis.