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