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