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
|
Abnormality of the bladder
Hyperreflexia in upper limbs Babinski sign Spasticity, lower limb Walking aids Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
61
|
70
|
No
|
Babinski sign
Spasticity, lower limb Walking aids Peripheral neuropathy on nerve conduction studies Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
35
|
57
|
No
|
Babinski sign
-Lower limb amyotrophy Hyperreflexia in upper limbs Spasticity, lower limb Abnormality of the bladder Lower limb muscle weakness Pes cavus Spasticity, upper limb Walking aids Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
12
|
34
|
No
|
Hyperreflexia in upper limbs
Spasticity, lower limb Walking aids Muscle weakness, upper limb 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
|
Pes cavus
Babinski sign Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
45
|
63
|
No
|
Babinski sign
Lower limb muscle weakness Hyperreflexia in upper limbs Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
10
|
22
|
No
|
Seizures
Hyperreflexia in upper limbs Lower limb muscle weakness Spasticity, lower limb Babinski sign 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, lower limb
Babinski sign Spasticity, upper limb Abnormality of the bladder Show more (+1) |
n.a.
|