Table 2.
Demographic, Clinical, and Genetic Findings
| ALS (n = 146) | ALS + CTE (n = 9) | p Value | ||
|---|---|---|---|---|
| Demographics | ||||
| Age at death (yrs) | 70.7 ± 9.9 | 63.3 ± 15.5 | 0.128‡ | |
| Gender, n male (%) | 143 (98%) | 9 (100%) | 0.835§ | |
| History of TBI, n (%) | 8 (5%) | 8 (89%) | <0.001§ | |
| RHI Exposure, n (%)* | – | 6 (67%) | – | |
| Family history of ALS, +/− (%) | 12/133 (8.3%) | 1/9 (11%) | 0.558§ | |
| Clinical characteristics | ||||
| Age at onset, years | 59.9 ± 12.1 | 52.9 ± 15.0 | 0.096‡ | |
| Disease duration, months | 126.9 ± 99.2 | 119.2 ± 83.7 | 0.912‡ | |
| Bulbar onset, +/− (%) | 17/108 (14%) | 5/4 (56%) | 0.006§ | |
| ALSFRS-R at death | 12.8 ± 7.8 | 12.9 ± 12 | 0.989‡ | |
| Progression rate (ΔFS)† | −0.6 ± 0.8 | −0.5 ± 0.5 | 0.689‡ |
|
| Cognitive impairment, +/− (%) | 11/135 (8%) | 1/8 (11%) | 0.525§ | |
| Behavioral disorder, +/− (%) | 8/138 (5%) | 4/5 (44%) | 0.002§ | |
| Mood disorder, +/− (%) | 33/113 (23%) | 7/2 (78%) | 0.001§ | |
| Genetic mutations | ||||
| Number tested | 93 (63%) | 5 (56%) | ||
| Known mutations** | 9 (10%) | 0 (0%) | 1.00§ | |
| C9orf72 | 3 (3%) | 0 (0%) | 0.306§ | |
Data are displayed as mean ± SD, percentage of cohort (%), or median (25th, 75th range) as appropriate.
ALS, amyotrophic lateral sclerosis; CTE, chronic traumatic encephalopathy; TBI, traumatic brain injury; RHI, repetitive head impacts; ALSFRS-R, ALS Functional Rating Scale-revised; C9orf72, chromosome 9 open reading frame 72; age at onset and disease duration available in 131 ALS participants; bulbar onset information available in 125 ALS participants.
RHI data was not available for the majority of ALS-only cases.
Progression rate (ΔFS) calculated as ΔFS = (ALSFRS at baseline – 48)/(disease duration).
Mann-Whitney U test.
Fisher exact test.
Known mutations included C9orF, FUS, NEK1, SOD1, TARDPB, PFN1, SETX, DCTN1, and OPTN.