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