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