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