Hida, 2010: 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
51
58
No
Ataxia
Developmental delay/intellectual disability
Diabetes mellitus
Abnormal central motor function
Decreased or absent cerulplasmin
Other mri abnormality
Cognitive impairment
Gait impairment
Hypointensity on basal ganglia and or nigra
Retinopathy
Postural instability
Ferritin increased
Tremor, head
Iron disadvantage
Other organ iron accumulation
NMS parkinsonism
Tremor (any or unspecified)
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Cognitive impairment
Postural instability
Tremor, head
p.Trp1036*: hom