Time from onset to clinical event, months | ||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Sex | Age at onset (years) | Disease duration (months) | Need for tracheostomy invasive ventilation | Progression to total quadriplegia | Development of overt oculomotor limitation | resulting in communication Stage V | Communication Stage V to death(months) | Accumulated protein | Neuropathology Brain weight | Upper and lower motor neurons | Substantia nigra | Globus pallidus | Subthalamic nucleus | Brainstem reticular formation | Cerebellar efferent system | Reference |
M | 38 | 60 | 11 | 20 | 20 | 32 | 28 | ubiquitin | 1300 | +++ | +++ | +++ | na | +++ | ++ | [14] Patient 1 |
M | 38 | 156 | 60 | 132 | 96 | 144 | 12 | ubiquitina | 1230 | +++ | +++ | na | na | ++ | +++ | [14] Patient 2 |
M | 63 | 144 | 36 | na | 36 | na | na | TDP-43 | 830 | +++ | +++ | + | na | +++ | + | [11] |
F | 33 | 288 | 24 | na | na | 156 | 84 | a mutation in OPTN | N/A | N/A | N/A | N/A | N/A | N/A | [28] Case 1b | |
M | 35 | 240 | 36 ≥ | na | na | 36 | 204 | a mutation in OPTN | N/A | N/A | N/A | N/A | N/A | N/A | [28] Case 2b | |
M | 44 | 27 | 6 | 15 | 15 | 26 | 1 | na | 1320 | +++ | + | + | + | +++ | + | [26] |