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