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
Retinopathy NMS parkinsonism Chorea Decreased or absent cerulplasmin Abnormal central motor function Hyperreflexia Cognitive impairment Other organ iron accumulation Anemia Short stature Other mri abnormality Dysarthria Developmental delay/intellectual disability Iron disadvantage Hypointensity on basal ganglia and or nigra Dystonia, oromandibular Ferritin increased Muscular hypotonia Diabetes mellitus Ataxia Dystonia (any or unspecified) Show more (+19) |
Cognitive impairment
Dysarthria |