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