Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
Babinski sign |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
2
|
20
|
No
|
Spasticity, lower limb
Babinski sign |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
6
|
32
|
No
|
Hyperreflexia in upper limbs
Spasticity, lower limb Abnormality of the bladder Babinski sign Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
58
|
63
|
No
|
Spasticity, lower limb
Lower limb muscle weakness Hyperreflexia in upper limbs Spasticity, upper limb Babinski sign Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
39
|
60
|
No
|
Spasticity, lower limb
Peripheral neuropathy on nerve conduction studies Walking aids Babinski sign Hyperreflexia in upper limbs Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
30
|
34
|
No
|
Spasticity, lower limb
Babinski sign Wheelchair Pes cavus Hyperreflexia in upper limbs Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
45
|
45
|
No
|
Walking aids
|
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
60
|
79
|
No
|
Babinski sign
Spasticity, lower limb Lower limb muscle weakness |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
44
|
46
|
No
|
Hyperreflexia in upper limbs
Spasticity, upper limb Spasticity, lower limb Babinski sign Lower limb muscle weakness Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
52
|
63
|
No
|
Spasticity, lower limb
Lower limb muscle weakness Walking aids |
n.a.
|