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