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