Bove, 2015: Overview of all reported DYT/PARK-CP-(NBIA) patients

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
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Dystonia (any or unspecified)
Hypomimic face
Gait impairment
p.Tyr420*: hom