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