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