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.
|
Tremor (any or unspecified)
Ferritin increased Hypomimic face Diabetes mellitus Abnormal central motor function Decreased or absent cerulplasmin Retinopathy Iron disadvantage Other mri abnormality Hypointensity on basal ganglia and or nigra Other organ iron accumulation Ataxia Postural tremor, upper limb Show more (+10) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
47
|
n.a.
|
Ataxia
Other organ iron accumulation Abnormal central motor function Decreased or absent cerulplasmin Postural instability Retinopathy Tremor, intention Gait impairment Hypointensity on basal ganglia and or nigra Dysarthria Iron disadvantage Ferritin increased Diabetes mellitus Other mri abnormality Show more (+11) |
n.a.
|