| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
CHN
|
43
|
48
|
n.a.
|
Muscle weakness, upper limb
Spasticity, upper limb Babinski sign Lower limb muscle weakness Spasticity, lower limb Impaired vibratory sensation -Pure or uncomplicated Pes cavus Show more (+5) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
6
|
23
|
n.a.
|
n.a.
|