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