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.
Iron disadvantage
Retinopathy
Hypointensity on basal ganglia and or nigra
Anemia
Dystonia, cervical
Ferritin increased
Dystonia (any or unspecified)
Other organ iron accumulation
Gait impairment
Hypomimic face
Bradykinesia
Abnormal central motor function
Diabetes mellitus
Seizures
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Dystonia (any or unspecified)
Gait impairment
Hypomimic face
p.Tyr420*: hom