| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Babinski sign
Pes cavus Spastic gait Lower limb muscle weakness Tip-toe gait -Pure or uncomplicated Spasticity, lower limb Show more (+4) |
n.a.
|
|
No
|
♂
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Spastic gait
Babinski sign -Pure or uncomplicated Pes cavus Spasticity, lower limb Lower limb muscle weakness Walking aids Tip-toe gait Show more (+5) |
n.a.
|
|
No
|
♂
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Pes cavus
Babinski sign Spastic gait Spasticity, lower limb Tip-toe gait Lower limb muscle weakness -Pure or uncomplicated Show more (+4) |
n.a.
|
|
No
|
♀
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Spastic gait
Tip-toe gait Lower limb muscle weakness -Pure or uncomplicated Spasticity, lower limb Babinski sign Pes cavus Show more (+4) |
n.a.
|
|
Yes
|
♂
|
D
|
USA
|
n.a.
|
5
|
n.a.
|
-Pure or uncomplicated
Spasticity, lower limb Tip-toe gait Pes cavus Babinski sign Spastic gait Lower limb muscle weakness Show more (+4) |
n.a.
|
|
No
|
♂
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Spastic gait
Tip-toe gait -Pure or uncomplicated Lower limb muscle weakness Spasticity, lower limb Babinski sign Pes cavus Show more (+4) |
n.a.
|