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