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