Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
JPN
|
63
|
65
|
n.a.
|
Ataxia
Hypomimic face Hyperreflexia Decreased or absent cerulplasmin Iron disadvantage Abnormal central motor function Diabetes mellitus Other mri abnormality Parkinsonism Other organ iron accumulation Bradykinesia Hypointensity on basal ganglia and or nigra Ferritin increased Retinopathy Gait impairment Rigidity Show more (+13) |
Parkinsonism
|