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
NMS parkinsonism
Hypointensity on basal ganglia and or nigra
Gait impairment
Postural instability
Retinopathy
Other organ iron accumulation
Diabetes mellitus
Iron disadvantage
Other mri abnormality
Ataxia
Developmental delay/intellectual disability
Cognitive impairment
Tremor, head
Abnormal central motor function
Ferritin increased
Tremor (any or unspecified)
Decreased or absent cerulplasmin
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Postural instability
Cognitive impairment
Tremor, head
p.Trp1036*: hom