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