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