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