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