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