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