| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
C
|
ITA
|
n.a.
|
n.a.
|
n.a.
|
Spasticity, lower limb
Cognitive impairment Mri brain other abnormalities Upper limb amyotrophy Pes cavus Impaired vibratory sensation Muscle weakness, upper limb Peripheral neuropathy on nerve conduction studies Seizures Show more (+6) |
n.a.
|