| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ITA
|
3
|
14
|
n.a.
|
-Pure or uncomplicated
-Lower limb amyotrophy Peripheral neuropathy on nerve conduction studies Spasticity, lower limb Lower limb muscle weakness Babinski sign Spastic gait Abnormality of the skeletal system Show more (+5) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
7
|
12
|
n.a.
|
Spastic gait
Babinski sign Central motor conduction time abnormality Abnormality of the skeletal system Spasticity, lower limb Peripheral neuropathy on nerve conduction studies -Pure or uncomplicated Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
3
|
11
|
n.a.
|
Babinski sign
Spasticity, lower limb Peripheral neuropathy on nerve conduction studies Spastic gait Abnormality of the skeletal system -Pure or uncomplicated Lower limb muscle weakness Show more (+4) |
n.a.
|