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