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