| 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.
|
Impaired vibratory sensation
Abnormality of the bladder Pes cavus -Pure or uncomplicated Babinski sign Lower limb muscle weakness Spasticity, lower limb Show more (+4) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
n.a.
|
n.a.
|
n.a.
|
Pes cavus
Spasticity, lower limb Babinski sign -Pure or uncomplicated Lower limb muscle weakness Impaired vibratory sensation Abnormality of the bladder Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
n.a.
|
n.a.
|
No
|
Pes cavus
Impaired vibratory sensation Spasticity, lower limb Babinski sign -Pure or uncomplicated Lower limb muscle weakness Show more (+3) |
n.a.
|