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