| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
JPN
|
51
|
55
|
n.a.
|
NMS parkinsonism
Chorea Other mri abnormality Abnormal central motor function Decreased or absent cerulplasmin Anemia Retinopathy Diabetes mellitus Hyperreflexia Dysarthria Hypointensity on basal ganglia and or nigra Cognitive impairment Dystonia, task-specific Dystonia, lower face Torticollis Dystonia, cervical Ataxia Ferritin increased Gait impairment Dystonia (any or unspecified) Iron disadvantage Developmental delay/intellectual disability Other organ iron accumulation Show more (+20) |
Dysarthria
Cognitive impairment Dystonia (any or unspecified) |
|
No
|
♂
|
A
|
JPN
|
50
|
51
|
n.a.
|
Gait impairment
Decreased or absent cerulplasmin Diabetes mellitus Cognitive impairment Ferritin increased NMS parkinsonism Hypointensity on basal ganglia and or nigra Hyperreflexia Other mri abnormality Iron disadvantage Abnormal central motor function Other organ iron accumulation Retinopathy Dyskinesia Ataxia Show more (+12) |
Gait impairment
Cognitive impairment |
|
No
|
♂
|
A
|
JPN
|
40
|
41
|
n.a.
|
Diabetes mellitus
Dystonia, axial Behavioral abnormality Dystonia (any or unspecified) NMS parkinsonism Decreased or absent cerulplasmin Cognitive impairment Sleep disorder Ferritin increased Iron disadvantage Hypointensity on basal ganglia and or nigra Other mri abnormality Dystonia, cervical Abnormal central motor function Dystonia, focal Ataxia Gait impairment Retinopathy Other organ iron accumulation Show more (+16) |
Behavioral abnormality
Cognitive impairment Gait impairment |