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