Table 3.
Demographic and clinical features of patients classified by diagnosis and by carrier status for the GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene
| ALS
|
FTD
|
|||
|---|---|---|---|---|
| With expansion§ | Without expansion¶ | With expansion° | Without Expansion* | |
| N | 465 | 3,983 | 160 | 1,265 |
| Age at onset (range) | 56·8 (27·0–80·0) | 58·7 (4·0–93·0) | 57·5 (30·0–76·3) | 60·0 (23·0–87·0) |
| Male (%) | 232 (50·1%) | 2,251 (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%) | 2,655 (74·0%) | - | - |
| Behavioural (%) | - | - | 106 (85·5%) | 685 (65·6%) |
| PNFA (%) | - | - | 11 (8·9%) | 165 (15·8%) |
| SD (%) | - | - | 7 (5·6%) | 195 (18·6%) |
§
Data were not available for age at onset (n = 19 patients), and site of onset (n = 45).
¶
Data were not available for age at onset (n = 305 patients), gender (n = 130), and site of onset (n = 395).
°
Data were not available for age at onset (n = 8), and site of onset (n = 36).
*
Data were not available for age at onset (n = 71), gender (n = 32), and site of onset (n = 220).