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