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