| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
30
|
66
|
n.a.
|
Spasticity, lower limb
Central motor conduction time abnormality Lower limb muscle weakness Mri brain other abnormalities Pes cavus Babinski sign Upper limb amyotrophy Spastic gait -Pure or uncomplicated Show more (+6) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
20
|
40
|
n.a.
|
Spastic gait
Babinski sign Global developmental delay Nerve conduction studies other abnormalities Spasticity, lower limb Mri brain other abnormalities Cognitive impairment Peripheral neuropathy on nerve conduction studies Central motor conduction time abnormality Lower limb muscle weakness Seizures Abnormality of the cerebral white matter Show more (+9) |
n.a.
|