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