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.
|
Dystonia, task-specific
Hyperreflexia Dysarthria Other organ iron accumulation Dystonia, cervical Iron disadvantage Gait impairment Other mri abnormality Chorea Cognitive impairment Dystonia, lower face Developmental delay/intellectual disability Diabetes mellitus Decreased or absent cerulplasmin Retinopathy Torticollis Anemia Dystonia (any or unspecified) Ataxia NMS parkinsonism Hypointensity on basal ganglia and or nigra Abnormal central motor function Ferritin increased Show more (+20) |
Dysarthria
Cognitive impairment Dystonia (any or unspecified) |
|
No
|
♂
|
A
|
JPN
|
50
|
51
|
n.a.
|
Gait impairment
Retinopathy Cognitive impairment Abnormal central motor function Ataxia Iron disadvantage Hyperreflexia Ferritin increased Other organ iron accumulation Decreased or absent cerulplasmin Dyskinesia Other mri abnormality Hypointensity on basal ganglia and or nigra Diabetes mellitus NMS parkinsonism Show more (+12) |
Gait impairment
Cognitive impairment |
|
No
|
♂
|
A
|
JPN
|
40
|
41
|
n.a.
|
Dystonia, axial
Dystonia (any or unspecified) Cognitive impairment Decreased or absent cerulplasmin Sleep disorder Diabetes mellitus Dystonia, cervical Iron disadvantage Behavioral abnormality Hypointensity on basal ganglia and or nigra Other mri abnormality Retinopathy NMS parkinsonism Other organ iron accumulation Abnormal central motor function Dystonia, focal Gait impairment Ferritin increased Ataxia Show more (+16) |
Cognitive impairment
Behavioral abnormality Gait impairment |