Bethlehem, 2010: 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
|
♀
|
n.a.
|
n.a.
|
n.a.
|
59
|
n.a.
|
Decreased or absent cerulplasmin
Developmental delay/intellectual disability Hypointensity on basal ganglia and or nigra Cognitive impairment Gait impairment Diabetes mellitus Ataxia Iron disadvantage Ferritin increased Abnormal central motor function Other organ iron accumulation Other mri abnormality NMS parkinsonism Anemia Show more (+11) |
n.a.
|