| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
JPN
|
49
|
54
|
n.a.
|
Chorea
Hyperreflexia Diabetes mellitus NMS parkinsonism Decreased or absent cerulplasmin Dysarthria Ferritin increased Cognitive impairment Dystonia, oromandibular Developmental delay/intellectual disability Iron disadvantage Muscular hypotonia Retinopathy Other organ iron accumulation Gait impairment Ataxia Short stature Other mri abnormality Anemia Abnormal central motor function Hypointensity on basal ganglia and or nigra Dystonia (any or unspecified) Show more (+19) |
Dysarthria
Cognitive impairment |