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