| 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
|
Babinski sign
Spasticity, lower limb |
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
Babinski sign Abnormality of the bladder Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
58
|
63
|
No
|
Spasticity, lower limb
Hyperreflexia in upper limbs Spasticity, upper limb Lower limb muscle weakness Babinski sign Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
39
|
60
|
No
|
Peripheral neuropathy on nerve conduction studies
Spasticity, lower limb 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
Pes cavus Hyperreflexia in upper limbs Babinski sign Wheelchair 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
|
Lower limb muscle weakness
Spasticity, lower limb Babinski sign |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
44
|
46
|
No
|
Hyperreflexia in upper limbs
Spasticity, lower limb Spasticity, upper limb Lower limb muscle weakness Babinski sign Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
52
|
63
|
No
|
Lower limb muscle weakness
Spasticity, lower limb Walking aids |
n.a.
|