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