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