Kawanami, 1996: 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
Yes
A
JPN
n.a.
58
n.a.
Dyskinesia
Ferritin increased
Diabetes mellitus
NMS parkinsonism
Developmental delay/intellectual disability
Decreased or absent cerulplasmin
Anemia
Other mri abnormality
Iron disadvantage
Abnormal central motor function
Retinopathy
Other organ iron accumulation
Hypointensity on basal ganglia and or nigra
Short stature
Depression
Behavioral abnormality
Cognitive impairment
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Dyskinesia
Behavioral abnormality
Cognitive impairment
p.Trp877*: hom