| Male: femalea | Mean age in years (SD)b | Neuro-pathological diagnosis | Number of cases available | Mutations | ||||
---|---|---|---|---|---|---|---|---|---|
Pineal gland | Hypo-thalamusc | SCN-related neurons | SON | PVN | |||||
C9orf72 cases | 6:1 | 56.7 (4.8) | ALS | 4 | 4 | 3 | 3 | 3 | C9orf72 |
FTLD-TDP | 2 | 2 | 2 | 2 | 2 | C9orf72 | |||
ALS-FTLD | 0 | 1 | 1 | 1 | 1 | C9orf72 | |||
Total | 6 | 7 | 6 | 6 | 6 | / | |||
nonC9orf72 cases | 13:8 | 62.1 (11.2) | ALS | 9 | 11 | 2 | 6 | 7 | 10 no mutation, 1 TARDBP |
FTLD-TDP | 7 | 9 | 2 | 6 | 7 | 5 no mutation, 1 TUBA4A, 1 GRN, 1 VCP, 1 TBK1 | |||
ALS-FTLD | 1 | 1 | 1 | 1 | 1 | No mutation | |||
Total | 17 | 21 | 5 | 13 | 15 | / | |||
Healthy control cases | 2:1 | 63.0 (2.7) | Healthy control | 3 | 3 | 0 | 0 | 0 | No mutation |
Total | 3 | 3 | 0 | 0 | 0 | / |