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