| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
n.a.
|
n.a.
|
38
|
40
|
No
|
Babinski sign
Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
35
|
38
|
No
|
Hyperreflexia in upper limbs
Spasticity, upper limb Spasticity, lower limb Muscle weakness, upper limb Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
No
|
Spasticity, upper limb
Babinski sign Hyperreflexia in upper limbs Pes cavus Abnormality of the bladder Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
30
|
58
|
No
|
Impaired pain sensation
Abnormality of the bladder Lower limb muscle weakness Wheelchair -Lower limb amyotrophy Babinski sign Hyperreflexia in upper limbs Spasticity, lower limb Show more (+5) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
21
|
47
|
No
|
Spasticity, upper limb
Babinski sign Walking aids Hyperreflexia in upper limbs Spasticity, lower limb Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
8
|
69
|
No
|
Lower limb muscle weakness
Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
37
|
51
|
No
|
n.a.
|
||
Yes
|
n.a.
|
n.a.
|
n.a.
|
3
|
34
|
No
|
Babinski sign
Spasticity, lower limb Hyperreflexia in upper limbs Abnormality of the bladder Dysarthria Lower limb muscle weakness -Lower limb amyotrophy Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
28
|
41
|
No
|
n.a.
|
||
Yes
|
n.a.
|
n.a.
|
n.a.
|
40
|
65
|
No
|
Hyperreflexia in upper limbs
Lower limb muscle weakness Spasticity, lower limb Babinski sign Spasticity, upper limb Show more (+2) |
n.a.
|