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