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