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