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