| 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 Cognitive impairment Other organ iron accumulation Tremor (any or unspecified) Ferritin increased Gait impairment Developmental delay/intellectual disability Iron disadvantage Postural instability Tremor, head Decreased or absent cerulplasmin Other mri abnormality Hypointensity on basal ganglia and or nigra Retinopathy NMS parkinsonism Diabetes mellitus Show more (+14) |
Cognitive impairment
Postural instability Tremor, head |