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