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