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