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