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