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