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