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