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