Morita, 1995: 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
55
n.a.
Retinopathy
NMS parkinsonism
Abnormal central motor function
Iron disadvantage
Dystonia (any or unspecified)
Torticollis
Decreased or absent cerulplasmin
Hyperreflexia
Ataxia
Ferritin increased
Gait impairment
Anemia
Dystonia, cervical
Other mri abnormality
Diabetes mellitus
Dystonia, lower face
Other organ iron accumulation
Developmental delay/intellectual disability
Cognitive impairment
Hypointensity on basal ganglia and or nigra
Dysarthria
Dystonia, task-specific
Chorea
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Dystonia (any or unspecified)
Cognitive impairment
Dysarthria
No
♂
A
JPN
50
51
n.a.
Gait impairment
Retinopathy
Dyskinesia
Abnormal central motor function
Diabetes mellitus
Ataxia
Other mri abnormality
Hyperreflexia
Cognitive impairment
Ferritin increased
Other organ iron accumulation
Iron disadvantage
Hypointensity on basal ganglia and or nigra
Decreased or absent cerulplasmin
NMS parkinsonism
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Gait impairment
Cognitive impairment
No
♂
A
JPN
40
41
n.a.
Retinopathy
NMS parkinsonism
Cognitive impairment
Diabetes mellitus
Other mri abnormality
Dystonia, focal
Gait impairment
Sleep disorder
Ferritin increased
Ataxia
Dystonia, axial
Abnormal central motor function
Decreased or absent cerulplasmin
Hypointensity on basal ganglia and or nigra
Other organ iron accumulation
Dystonia, cervical
Iron disadvantage
Behavioral abnormality
Dystonia (any or unspecified)
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Cognitive impairment
Gait impairment
Behavioral abnormality