| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
JPN
|
51
|
58
|
No
|
Ataxia
Postural instability Iron disadvantage Hypointensity on basal ganglia and or nigra Cognitive impairment Abnormal central motor function Retinopathy Other mri abnormality Diabetes mellitus Developmental delay/intellectual disability Ferritin increased Tremor, head Decreased or absent cerulplasmin Other organ iron accumulation Tremor (any or unspecified) Gait impairment NMS parkinsonism Show more (+14) |
Postural instability
Cognitive impairment Tremor, head |