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