| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
45
|
45
|
n.a.
|
Decreased or absent cerulplasmin
Hypointensity on basal ganglia and or nigra Diabetes mellitus Iron disadvantage Other mri abnormality Ferritin increased Abnormal central motor function Gait impairment Retinopathy Dysarthria Ataxia Show more (+8) |
Gait impairment
Dysarthria |