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