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