Bosio, 2002: 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
|
♀
|
C
|
ITA
|
62
|
62
|
n.a.
|
Ferritin increased
Decreased or absent cerulplasmin Ataxia Dystonia (any or unspecified) Other mri abnormality Hypointensity on basal ganglia and or nigra Anemia Other organ iron accumulation Parkinsonism Retinopathy NMS parkinsonism Iron disadvantage Developmental delay/intellectual disability Cognitive impairment Diabetes mellitus Abnormal central motor function Show more (+13) |
Dystonia (any or unspecified)
Parkinsonism |