| 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.
|
Upper limb amyotrophy
Mri brain other abnormalities Spasticity, lower limb Cognitive impairment Muscle weakness, upper limb Seizures Pes cavus Peripheral neuropathy on nerve conduction studies Impaired vibratory sensation Show more (+6) |
n.a.
|