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