Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ITA
|
48
|
56
|
n.a.
|
Resting tremor
Hypointensity on basal ganglia and or nigra Dystonia, limb Dystonia, focal Developmental delay/intellectual disability Other mri abnormality Diabetes mellitus Abnormal central motor function Retinopathy Anemia Other organ iron accumulation Iron disadvantage Ferritin increased Cognitive impairment Hypomimic face Tremor (any or unspecified) Gait impairment Behavioral abnormality Dysarthria Parkinsonism Tremor, action Bradykinesia Dystonia (any or unspecified) Dystonia, hand Rigidity Postural tremor Show more (+23) |
Gait impairment
Behavioral abnormality Bradykinesia |