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