| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
ITA
|
1
|
6
|
n.a.
|
Babinski sign
-Pure or uncomplicated Spasticity, lower limb -Lower limb amyotrophy Hyperreflexia in upper limbs Spastic gait Show more (+3) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
ITA
|
30
|
45
|
n.a.
|
Babinski sign
Abnormality of the bladder Hyperreflexia in upper limbs -Pure or uncomplicated Spasticity, upper limb Spastic gait Spasticity, lower limb Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
ITA
|
25
|
32
|
n.a.
|
Babinski sign
-Lower limb amyotrophy Spasticity, lower limb Spastic gait Hyperreflexia in upper limbs -Pure or uncomplicated Show more (+3) |
n.a.
|