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