Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
A
|
JPN
|
70
|
90
|
n.a.
|
Spasticity, lower limb
Lower limb muscle weakness -Pure or uncomplicated Babinski sign Show more (+1) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
21
|
27
|
n.a.
|
Babinski sign
Spasticity, lower limb -Pure or uncomplicated Lower limb muscle weakness Pes cavus Show more (+2) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
24
|
31
|
n.a.
|
Lower limb muscle weakness
Spasticity, lower limb -Pure or uncomplicated Pes cavus Babinski sign Show more (+2) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
3
|
8
|
n.a.
|
Pes cavus
Babinski sign -Pure or uncomplicated Lower limb muscle weakness Spasticity, lower limb Show more (+2) |
n.a.
|
|
No
|
♀
|
A
|
JPN
|
56
|
66
|
n.a.
|
-Pure or uncomplicated
Abnormality of the bladder Babinski sign Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
♂
|
A
|
JPN
|
30
|
38
|
n.a.
|
Spasticity, lower limb
Babinski sign -Pure or uncomplicated |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
53
|
56
|
n.a.
|
Babinski sign
Pes cavus Spasticity, lower limb Lower limb muscle weakness -Pure or uncomplicated Show more (+2) |
n.a.
|