| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
CHN
|
46
|
52
|
n.a.
|
Anemia
Cognitive impairment Rigidity Retinopathy Gait impairment Ferritin increased Diabetes mellitus Other organ iron accumulation Postural tremor, upper limb Dystonia (any or unspecified) Dystonia, cervical Abnormal central motor function Decreased or absent cerulplasmin Hand tremor Hypointensity on basal ganglia and or nigra Postural tremor Dystonia, focal Tremor, limb Dystonia, axial Ataxia Tremor (any or unspecified) Other mri abnormality Show more (+19) |
n.a.
|