| 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
Spasticity, lower limb Spastic gait Lower limb muscle weakness Abnormality of the skeletal system Babinski sign Peripheral neuropathy on nerve conduction studies -Lower limb amyotrophy Show more (+5) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
7
|
12
|
n.a.
|
Central motor conduction time abnormality
Spasticity, lower limb Abnormality of the skeletal system Babinski sign Peripheral neuropathy on nerve conduction studies -Pure or uncomplicated Spastic gait Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
3
|
11
|
n.a.
|
Abnormality of the skeletal system
Spasticity, lower limb Babinski sign Spastic gait Lower limb muscle weakness -Pure or uncomplicated Peripheral neuropathy on nerve conduction studies Show more (+4) |
n.a.
|