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