Table 1.
Comparison of baseline characteristics between clinical phenotypes in all individuals with ALS-FTD spectrum disorder
| ALS (n = 103) | ALS-FTD (n = 47) | bvFTD (n = 57) | Missing data | pALSvsALS−FTD | pALSvsbvFTD | pALS−FTDvsbvFTD | |
|---|---|---|---|---|---|---|---|
| Age at MRI (years) | 58.9 (10.3) | 62.6 (9.6) | 62.9 (7.5) | 0.0% | 0.04 | 0.005 | 0.85 |
| Gender (male%) | 58 (56.3%) | 28 (59.6%) | 36 (63.2%) | 0.0% | 0.71 | 0.40 | 0.71 |
| Education (years) | 16.7 (12.0) | 15.0 (2.8) | 16.1 (2.8) | 0.0% | 0.72 | 0.09 | 0.09 |
| Disease duration (months) | 37.8 (36.4) | 42.9 (33.8) | 52.0 (38.1) | 0.0% | 0.20 | 0.0004 | 0.06 |
| Diagnostic delay (months) | 17.7 (17.6) | 36.8 (34.6) | 46.5 (33.2) | 0.0% | < 0.0001 | < 0.0001 | 0.007 |
| MMSE | 27.7 (2.8) | 24.1 (5.7) | 24.3 (4.9) | 6.3% | < 0.0001 | < 0.0001 | 0.87 |
| Genetic pathogenic variantsa | n = 99 | n = 45 | n = 57 | 2.9% | - | - | - |
| C9orf72 | 7 (7.1%) | 10 (22.2%) | 31 (54.4%) | 0.009 | < 0.0001 | 0.001 | |
| GRN | 0 (0.0%) | 0 (0.0%) | 11 (19.3%) | 1.00 | < 0.0001 | 0.002 | |
| MME | 1 (1.0%) | 0 (0.0%) | 0 (0.0%) | 1.00 | 1.00 | 1.00 | |
| TBK1 | 0 (0.0%) | 1 (2.2%) | 1 (1.6%) | 0.31 | 0.37 | 1.00 | |
| TARDBP | 0 (0.0%) | 0 (0.0%) | 2 (3.5%) | 1.00 | 0.13 | 0.50 | |
| FTLD/ALS-TDPb | n = 21 | n = 7 | n = 27 | 73.4% | 0.0003 | < 0.0001 | 0.13 |
| Type A | 1 (4.8%) | 1 (14.3%) | 14 (51.9%) | - | - | - | - |
| Type B/E | 3 (14.3%) | 6 (85.7%) | 9 (33.3%) | - | - | - | - |
| Type C | 0 (0.0%) | 0 (0.0%) | 3 (11.1%) | - | - | - | - |
| Non-specific | 17 (81.0%) | 0 (0.0%) | 1 (3.7%) | - | - | - | - |
| SuStaIn stage | 3.3 (5.2) | 12.1 (7.7) | 15.6 (7.2) | 0.0% | < 0.0001 | < 0.0001 | 0.02 |
Data are presented as mean (standard deviation) for the continuous variables, and as number (frequency) for the categorical variables. Missing data indicates the percentage of individuals with missing data.
a
number of individuals underwent genetic screening;
b
number of individuals underwent neuropathological examination.
ALS amyotrophic lateral sclerosis, ALS-FTD amyotrophic lateral sclerosis-frontotemporal degeneration, bvFTD behavioral variant frontotemporal degeneration, MMSE Mini-Mental Status Examination, FTLD/ALS-TDP frontotemporal lobar degeneration or amyotrophic lateral sclerosis with TDP-43 inclusions.