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