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