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