Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
39
|
n.a.
|
Retinopathy
Ferritin increased Hypomimic face Ataxia Abnormal central motor function Tremor (any or unspecified) Decreased or absent cerulplasmin Other mri abnormality Hypointensity on basal ganglia and or nigra Other organ iron accumulation Iron disadvantage Postural tremor, upper limb Diabetes mellitus Show more (+10) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
47
|
n.a.
|
Postural instability
Retinopathy Ataxia Gait impairment Iron disadvantage Decreased or absent cerulplasmin Abnormal central motor function Hypointensity on basal ganglia and or nigra Tremor, intention Diabetes mellitus Other mri abnormality Dysarthria Ferritin increased Other organ iron accumulation Show more (+11) |
n.a.
|