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