| | |
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]
|
-
M male, F female, na not available, N/A not applicable, OPTN the optineurin gene
-
aubiquitin-immunoreactive basophilic inclusions
-
bClinical report