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