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