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