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