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