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