| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
62
|
62
|
n.a.
|
Cognitive impairment
Abnormal central motor function Other mri abnormality Diabetes mellitus NMS parkinsonism Anemia Ataxia Ferritin increased Developmental delay/intellectual disability Decreased or absent cerulplasmin Dystonia (any or unspecified) Retinopathy Parkinsonism Iron disadvantage Hypointensity on basal ganglia and or nigra Other organ iron accumulation Show more (+13) |
Dystonia (any or unspecified)
Parkinsonism |