| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
n.a.
|
n.a.
|
32
|
52
|
No
|
Walking aids
Hyperreflexia in upper limbs Abnormality of the bladder Babinski sign Spasticity, lower limb Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
61
|
70
|
No
|
Walking aids
Babinski sign Spasticity, lower limb Peripheral neuropathy on nerve conduction studies Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
35
|
57
|
No
|
-Lower limb amyotrophy
Lower limb muscle weakness Spasticity, lower limb Spasticity, upper limb Walking aids Pes cavus Abnormality of the bladder Hyperreflexia in upper limbs Babinski sign Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
12
|
34
|
No
|
Hyperreflexia in upper limbs
Spasticity, lower limb Muscle weakness, upper limb Walking aids Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
65
|
70
|
No
|
n.a.
|
||
No
|
n.a.
|
n.a.
|
n.a.
|
45
|
69
|
No
|
Babinski sign
Pes cavus Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
45
|
63
|
No
|
Babinski sign
Lower limb muscle weakness Spasticity, lower limb Hyperreflexia in upper limbs Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
10
|
22
|
No
|
Babinski sign
Hyperreflexia in upper limbs Lower limb muscle weakness Spasticity, lower limb Seizures Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
30
|
35
|
No
|
Spasticity, lower limb
Hyperreflexia in upper limbs |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
12
|
47
|
No
|
Spasticity, upper limb
Babinski sign Abnormality of the bladder Spasticity, lower limb Show more (+1) |
n.a.
|