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