Yazaki, 1998: 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
|
49
|
54
|
n.a.
|
NMS parkinsonism
Anemia Decreased or absent cerulplasmin Hyperreflexia Ferritin increased Dystonia, oromandibular Diabetes mellitus Short stature Dysarthria Abnormal central motor function Muscular hypotonia Other mri abnormality Ataxia Developmental delay/intellectual disability Retinopathy Iron disadvantage Gait impairment Cognitive impairment Dystonia (any or unspecified) Hypointensity on basal ganglia and or nigra Chorea Other organ iron accumulation Show more (+19) |
Dysarthria
Cognitive impairment |