| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
5
|
39
|
n.a.
|
Spastic gait
Lower limb muscle weakness Hyperreflexia in upper limbs Cerebellar atrophy Babinski sign Ataxia, limb Spasticity, lower limb Show more (+4) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
n.a.
|
68
|
n.a.
|
Mri spine abnormalities
Walking aids Lower limb muscle weakness Central motor conduction time abnormality Peripheral neuropathy on nerve conduction studies Nerve conduction studies other abnormalities -Lower limb amyotrophy Show more (+4) |
n.a.
|