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