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