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