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