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