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