| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
ITA
|
53
|
53
|
n.a.
|
Ferritin increased
Dystonia, cervical Seizures Diabetes mellitus Dystonia (any or unspecified) Hypomimic face Hypointensity on basal ganglia and or nigra Iron disadvantage Retinopathy Gait impairment Anemia Other organ iron accumulation Abnormal central motor function Bradykinesia Show more (+11) |
Dystonia (any or unspecified)
Hypomimic face Gait impairment |