| 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
Babinski sign Lower limb muscle weakness Mri brain other abnormalities Upper limb amyotrophy Spasticity, lower limb Spastic gait -Pure or uncomplicated Pes cavus Show more (+6) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
20
|
40
|
n.a.
|
Lower limb muscle weakness
Spastic gait Global developmental delay Peripheral neuropathy on nerve conduction studies Babinski sign Central motor conduction time abnormality Seizures Cognitive impairment Mri brain other abnormalities Abnormality of the cerebral white matter Spasticity, lower limb Nerve conduction studies other abnormalities Show more (+9) |
n.a.
|