| 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.
|
Gait impairment
Ataxia Iron disadvantage Abnormal central motor function Hypointensity on basal ganglia and or nigra Other organ iron accumulation Ferritin increased Developmental delay/intellectual disability Other mri abnormality Decreased or absent cerulplasmin NMS parkinsonism Anemia Cognitive impairment Diabetes mellitus Show more (+11) |
n.a.
|