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