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