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