Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
59
|
n.a.
|
Iron disadvantage
Ataxia Abnormal central motor function Developmental delay/intellectual disability Hypointensity on basal ganglia and or nigra NMS parkinsonism Other organ iron accumulation Cognitive impairment Gait impairment Anemia Diabetes mellitus Decreased or absent cerulplasmin Other mri abnormality Ferritin increased Show more (+11) |
n.a.
|