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