Table 3.
Demographic and clinical features of patients classified by diagnosis and by carrier status for the GGGGCC hexanucleotide repeat expansion in C9orf72
| Amyotrophic lateral sclerosis | Frontotemporal dementia | ||||
|---|---|---|---|---|---|
| With expansion (n=465)* | Without expansion (n=3983)† | With expansion (n=160)‡ | Without expansion (n=1265)§ | ||
| Mean age at onset (range; SD) | 56·8 (27·0–80·0; 9·1) | 58·7 (4·0–93·0; 12·8) | 57·5 (30·0–76·3; 8·3) | 60·0 (23·0–87·0; 8·8) | |
| Sex, male | 232 (50·1%) | 2251 (58·4%) | 87 (54·4%) | 683 (55·4%) | |
| Positive family history | 221 (47·5%) | 367 (9·2%) | 101 (63·1%) | 302 (23·9%) | |
| Presentation | |||||
| Bulbar | 139 (33·1%) | 933 (26·0%) | .. | .. | |
| Limb | 281 (66·9%) | 2655 (74·0%) | .. | .. | |
| Behavioural variant | .. | .. | 106 (85·5%) | 685 (65·6%) | |
| Progressive non-fluent aphasia | .. | .. | 11 (8·9%) | 165 (15·8%) | |
| Semantic dementia | .. | .. | 7 (5·6%) | 195 (18·6%) | |
Data are mean (range; SD) or n (%).
*
Data not available for age at onset for 19 patients and site of onset for 45 patients.
†
Data not available for age at onset for 305 patients, sex for 130 patients, and site of onset for 395 patients.
‡
Data not available for age at onset for eight patients and site of onset for 36 patients.
§
Data not available for age at onset for 71 patients, sex for32 patients, and site of onset for 220 patients.