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