| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
JPN
|
15
|
30
|
n.a.
|
Wheelchair
Spasticity, lower limb -Pure or uncomplicated Babinski sign Inability to walk Show more (+2) |
n.a.
|
|
No
|
♀
|
A
|
JPN
|
34
|
53
|
n.a.
|
Babinski sign
Spasticity, lower limb Impaired vibratory sensation -Pure or uncomplicated Show more (+1) |
n.a.
|
|
No
|
♂
|
A
|
JPN
|
47
|
63
|
n.a.
|
Babinski sign
-Pure or uncomplicated Spasticity, lower limb Wheelchair Impaired vibratory sensation Inability to walk Hyperreflexia in upper limbs Show more (+4) |
n.a.
|