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