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