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