| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
C
|
ITA
|
n.a.
|
n.a.
|
n.a.
|
Babinski sign
-Pure or uncomplicated Spasticity, lower limb Impaired vibratory sensation Abnormality of the bladder Lower limb muscle weakness Pes cavus Show more (+4) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
n.a.
|
n.a.
|
n.a.
|
Babinski sign
Abnormality of the bladder Lower limb muscle weakness Pes cavus Spasticity, lower limb -Pure or uncomplicated Impaired vibratory sensation Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
n.a.
|
n.a.
|
No
|
Impaired vibratory sensation
Pes cavus Babinski sign -Pure or uncomplicated Lower limb muscle weakness Spasticity, lower limb Show more (+3) |
n.a.
|