| |
Pt1
|
Pt2
|
|---|
|
Current age
|
68
|
60
|
|
Age at onset
|
55
|
46
|
|
Disease duration at the time of examinations, years
|
13
|
14
|
|
Instrumental assessment *
|
|
Cognitive: MMSE score
|
16/30
|
30/30
|
|
EMG
|
0
|
Mild motor axonal neuropathy (1)
|
|
MEPs Bulbar/UL/LL
|
N.A./0/0
|
1/1/3
|
|
SEPs UL/LL
|
1/1
|
0/1
|
|
BAEPs
|
NA
|
NA
|
|
VEPs
|
0
|
0
|
|
Autonomic testing
|
0
|
0
|
|
Clinical scoring **
|
|
Dysarthria/dysphagia
|
2
|
2
|
|
Gait abnormalities
|
1
|
3
|
|
Spasticity
|
0
|
3
|
|
Axial Ataxia
|
1
|
0
|
|
Limb dysmetria
|
2
|
0
|
|
Limb weakness
|
0
|
2
|
|
Muscle wasting
|
0
|
1
|
|
Sphincter function
|
2
|
0
|
- * For neurophysiological assessments, values are graded as 0 (normal), 1 (abnormality not exceeding 25% of upper/lower normal ranges), 2 (between 25 and 50%), and 3 (beyond 50%).
- ** For clinical dysfunctions, abnormalities are graded as 0 (normal), 1 (only objective signs), 2 (mild dysfunction, not interfering with activities), 3 (severe dysfunction interfering with walking, feeding, or social interactions).
- MMSE: mini–mental state examination; EMG: Electromyography; MEPs: Motor evoked potentials; SEPs: Sensory evoked potentials; UL/LL: upper/lower limbs; BAEPs: Brainstem Auditory Evoked Potentials; VEPs: visual evoked potentials.
