Table 3.
Prevalence of a positive finding for each pathological feature for the total ALS study population as well as for the sub-groups of Alzheimer’s Disease (AD), non-Alzheimer’s Disease (non-AD), <50 years of age at onset (<50 yrs), >60 years at onset (>60 yrs), continuous riluzole treatment (riluzole), those who never took riluzole (non-riluzole), and those with severe TDP-43 findings. marker
| Assessment | ALL | AD | non-AD | <50 yrs | >60 yrs | limb onset | bulbar onset | riluzole | non-riluzole | severe TDP-43 | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sample Size | % | N | % | N | % | N | % | N | % | N | % | N | % | N | % | N | % | N | % | N |
| 100 | 46 | 22 | 10 | 78 | 36 | 28 | 13 | 39 | 18 | 65 | 30 | 26 | 12 | 63 | 29 | 17 | 8 | 57 | 26 | |
| PATHOLOGICAL MARKERS | ||||||||||||||||||||
| Alpha-synuclein | 4 | 2 | 0 | 0 | 6 | 2 | 0 | 0 | 6 | 1 | 3 | 1 | 0 | 0 | 3 | 1 | 0 | 0 | 4 | 1 |
| Beta-Amyloid | 35 | 16 | 80 | 8 | 22 | 8 | 8 | 1 | 44 | 8 | 33 | 10 | 50 | 6 | 41 | 12 | 50 | 4 | 38 | 10 |
| Lewy Body Formation | 11 | 5 | 10 | 1 | 11 | 4 | 8 | 1 | 17 | 3 | 13 | 4 | 8 | 1 | 7 | 2 | 13 | 1 | 4 | 1 |
| Tauopathy | 17 | 8 | 10 | 1 | 19 | 7 | 23 | 3 | 6 | 1 | 20 | 6 | 17 | 2 | 21 | 6 | 0 | 0 | 15 | 4 |
| TDP-43 | 80 | 37 | 80 | 8 | 81 | 29 | 85 | 11 | 78 | 14 | 77 | 23 | 75 | 9 | 83 | 24 | 63 | 5 | 100 | 26 |
| CIRCULATORY | ||||||||||||||||||||
| Atherosclerosis | 35 | 16 | 60 | 6 | 28 | 10 | 8 | 1 | 44 | 8 | 30 | 9 | 33 | 4 | 38 | 11 | 13 | 1 | 38 | 10 |
| Infarcts | 2 | 1 | 0 | 0 | 3 | 1 | 0 | 0 | 6 | 1 | 0 | 0 | 8 | 1 | 0 | 0 | 13 | 1 | 4 | 1 |
| Microinfarcts | 7 | 3 | 0 | 0 | 8 | 3 | 0 | 0 | 17 | 3 | 3 | 1 | 17 | 2 | 7 | 2 | 13 | 1 | 12 | 3 |
| Ventricular Dilation | 13 | 6 | 30 | 3 | 8 | 3 | 0 | 0 | 28 | 5 | 10 | 3 | 17 | 2 | 14 | 4 | 0 | 0 | 23 | 6 |
| TRACT DEGENERATION & DENERVATION | ||||||||||||||||||||
| Anterior Corticospinal Tract | 72 | 33 | 80 | 8 | 69 | 25 | 69 | 9 | 61 | 11 | 73 | 22 | 50 | 6 | 66 | 19 | 75 | 6 | 81 | 21 |
| Lateral Corticospinal Tract | 89 | 41 | 100 | 10 | 86 | 31 | 77 | 10 | 89 | 16 | 87 | 26 | 92 | 11 | 86 | 25 | 88 | 7 | 92 | 24 |
| Denervation | 67 | 31 | 80 | 8 | 64 | 23 | 69 | 9 | 61 | 11 | 73 | 22 | 67 | 8 | 69 | 20 | 63 | 5 | 69 | 18 |
| NEURONAL LOSS | ||||||||||||||||||||
| All (any area) | 83 | 38 | 80 | 8 | 83 | 30 | 69 | 9 | 83 | 15 | 87 | 26 | 75 | 9 | 83 | 24 | 100 | 8 | 85 | 22 |
| Amygdala | 4 | 2 | 0 | 0 | 6 | 2 | 8 | 1 | 6 | 1 | 3 | 1 | 0 | 0 | 3 | 1 | 0 | 0 | 8 | 2 |
| Anterior Horns | 43 | 20 | 30 | 3 | 47 | 17 | 23 | 3 | 50 | 9 | 43 | 13 | 58 | 7 | 45 | 13 | 50 | 4 | 46 | 12 |
| Betz Cells | 76 | 35 | 80 | 8 | 75 | 27 | 69 | 9 | 78 | 14 | 73 | 22 | 83 | 10 | 72 | 21 | 75 | 6 | 81 | 21 |
| Dentate Nucleus | 17 | 8 | 20 | 2 | 17 | 6 | 23 | 3 | 6 | 1 | 17 | 5 | 8 | 1 | 17 | 5 | 13 | 1 | 19 | 5 |
| Gyrus | 2 | 1 | 0 | 0 | 3 | 1 | 0 | 0 | 6 | 1 | 3 | 1 | 0 | 0 | 3 | 1 | 0 | 0 | 4 | 1 |
| Locus Ceruleus | 13 | 6 | 20 | 2 | 11 | 4 | 15 | 2 | 11 | 2 | 13 | 4 | 0 | 0 | 10 | 3 | 13 | 1 | 8 | 2 |
| Medulla | 33 | 15 | 40 | 4 | 31 | 11 | 23 | 3 | 28 | 5 | 30 | 9 | 33 | 4 | 34 | 10 | 38 | 3 | 35 | 9 |
| Purkinje Cells | 85 | 39 | 90 | 9 | 83 | 30 | 85 | 11 | 83 | 15 | 83 | 25 | 75 | 9 | 86 | 25 | 75 | 6 | 100 | 26 |
| Spinal Cord | 24 | 11 | 40 | 4 | 19 | 7 | 31 | 4 | 17 | 3 | 23 | 7 | 25 | 3 | 24 | 7 | 38 | 3 | 31 | 8 |
| Substantia Nigra | 13 | 6 | 20 | 2 | 11 | 4 | 8 | 1 | 11 | 2 | 10 | 3 | 17 | 2 | 10 | 3 | 0 | 0 | 8 | 2 |
| NEURAL ATROPHY | ||||||||||||||||||||
| Brain | 20 | 9 | 30 | 3 | 17 | 6 | 8 | 1 | 28 | 5 | 13 | 4 | 33 | 4 | 17 | 5 | 38 | 3 | 31 | 8 |
| Diaphragm | 54 | 25 | 60 | 6 | 53 | 19 | 54 | 7 | 50 | 9 | 63 | 19 | 58 | 7 | 59 | 17 | 50 | 4 | 54 | 14 |
| Paraspinal Muscle Fiber | 57 | 26 | 60 | 6 | 56 | 20 | 62 | 8 | 50 | 9 | 60 | 18 | 58 | 7 | 59 | 17 | 38 | 3 | 58 | 15 |
| Spinal Cord | 9 | 4 | 0 | 0 | 11 | 4 | 15 | 2 | 6 | 1 | 3 | 1 | 17 | 2 | 10 | 3 | 0 | 0 | 4 | 1 |
| Spinal Ventral Nerve Roots | 65 | 30 | 90 | 9 | 58 | 21 | 54 | 7 | 61 | 11 | 67 | 20 | 67 | 8 | 69 | 20 | 63 | 5 | 81 | 21 |
| PIGMENTARY INCONTINENCE | ||||||||||||||||||||
| Locus Ceruleus | 76 | 35 | 80 | 8 | 75 | 27 | 69 | 9 | 78 | 14 | 73 | 22 | 83 | 10 | 83 | 24 | 63 | 5 | 85 | 22 |
| Substantia Nigra | 70 | 32 | 70 | 7 | 69 | 25 | 62 | 8 | 67 | 12 | 70 | 21 | 83 | 10 | 72 | 21 | 63 | 5 | 73 | 19 |
| NEUROFILBRILLARY TANGLES | ||||||||||||||||||||
| All (any area) | 78 | 36 | 100 | 10 | 72 | 26 | 62 | 8 | 83 | 15 | 73 | 22 | 83 | 10 | 83 | 24 | 63 | 5 | 88 | 23 |
| Amygdala | 43 | 20 | 80 | 8 | 33 | 12 | 23 | 3 | 50 | 9 | 43 | 13 | 50 | 6 | 52 | 15 | 50 | 4 | 38 | 10 |
| Anterior Horn Cells | 4 | 2 | 10 | 1 | 3 | 1 | 8 | 1 | 0 | 0 | 7 | 2 | 0 | 0 | 7 | 2 | 0 | 0 | 0 | 0 |
| Basal Ganglia | 2 | 1 | 0 | 0 | 3 | 1 | 8 | 1 | 0 | 0 | 0 | 0 | 8 | 1 | 3 | 1 | 0 | 0 | 0 | 0 |
| Caudate Nucleus | 2 | 1 | 10 | 1 | 0 | 0 | 0 | 0 | 6 | 1 | 0 | 0 | 8 | 1 | 3 | 1 | 0 | 0 | 4 | 1 |
| Cingulate Cortex | 4 | 2 | 0 | 0 | 6 | 2 | 0 | 0 | 6 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 8 | 2 |
| Dentate Nucleus | 2 | 1 | 0 | 0 | 3 | 1 | 0 | 0 | 0 | 0 | 3 | 1 | 0 | 0 | 0 | 0 | 13 | 1 | 4 | 1 |
| Entorhinal Cortex | 61 | 28 | 80 | 8 | 56 | 20 | 31 | 4 | 72 | 13 | 57 | 17 | 58 | 7 | 66 | 19 | 63 | 5 | 69 | 18 |
| Frontal Cortex | 13 | 6 | 10 | 1 | 14 | 5 | 23 | 3 | 11 | 2 | 17 | 5 | 17 | 2 | 17 | 5 | 0 | 0 | 19 | 5 |
| Hippocampus | 37 | 17 | 80 | 8 | 25 | 9 | 23 | 3 | 50 | 9 | 27 | 8 | 58 | 7 | 41 | 12 | 38 | 3 | 38 | 10 |
| Hypothalamus | 22 | 10 | 30 | 3 | 19 | 7 | 8 | 1 | 28 | 5 | 17 | 5 | 25 | 3 | 17 | 5 | 38 | 3 | 27 | 7 |
| Insular Cortex | 22 | 10 | 50 | 5 | 14 | 5 | 8 | 1 | 33 | 6 | 20 | 6 | 25 | 3 | 21 | 6 | 13 | 1 | 27 | 7 |
| Locus Ceruleus | 30 | 14 | 40 | 4 | 28 | 10 | 23 | 3 | 22 | 4 | 27 | 8 | 25 | 3 | 28 | 8 | 38 | 3 | 38 | 10 |
| Neocortex | 4 | 2 | 0 | 0 | 6 | 2 | 8 | 1 | 0 | 0 | 3 | 1 | 8 | 1 | 7 | 2 | 0 | 0 | 0 | 0 |
| Nucleus Basalis | 43 | 20 | 40 | 4 | 44 | 16 | 31 | 4 | 50 | 9 | 30 | 9 | 67 | 8 | 34 | 10 | 50 | 4 | 62 | 16 |
| Occipital Cortex | 2 | 1 | 0 | 0 | 3 | 1 | 0 | 0 | 0 | 0 | 3 | 1 | 0 | 0 | 3 | 1 | 0 | 0 | 0 | 0 |
| Parietal Cortex | 2 | 1 | 10 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 1 | 0 | 0 | 3 | 1 | 0 | 0 | 0 | 0 |
| Putamen | 2 | 1 | 10 | 1 | 0 | 0 | 0 | 0 | 6 | 1 | 0 | 0 | 8 | 1 | 3 | 1 | 0 | 0 | 4 | 1 |
| Substantia Nigra | 13 | 6 | 20 | 2 | 11 | 4 | 15 | 2 | 17 | 3 | 10 | 3 | 17 | 2 | 14 | 4 | 13 | 1 | 15 | 4 |
| Temporal Cortex | 15 | 7 | 10 | 1 | 17 | 6 | 8 | 1 | 22 | 4 | 13 | 4 | 17 | 2 | 17 | 5 | 13 | 1 | 23 | 6 |
| Thalamus | 15 | 7 | 30 | 3 | 11 | 4 | 8 | 1 | 28 | 5 | 10 | 3 | 25 | 3 | 21 | 6 | 0 | 0 | 19 | 5 |
| DEMENTIA | ||||||||||||||||||||
| AD (pathological) | 22 | 10 | 100 | 10 | 0 | 0 | 0 | 0 | 33 | 6 | 20 | 6 | 25 | 3 | 31 | 9 | 0 | 0 | 15 | 4 |
| FTLD (pathological) | 26 | 12 | 30 | 3 | 25 | 9 | 0 | 0 | 33 | 6 | 17 | 5 | 42 | 5 | 24 | 7 | 38 | 3 | 42 | 11 |