| 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
Babinski sign Cerebellar atrophy Spastic gait Hyperreflexia in upper limbs Ataxia, limb Spasticity, lower limb Show more (+4) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
n.a.
|
68
|
n.a.
|
-Lower limb amyotrophy
Mri spine abnormalities Nerve conduction studies other abnormalities Lower limb muscle weakness Peripheral neuropathy on nerve conduction studies Central motor conduction time abnormality Walking aids Show more (+4) |
n.a.
|