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