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