Pan, 2011: 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
|
CHN
|
46
|
52
|
n.a.
|
Anemia
Decreased or absent cerulplasmin Hypointensity on basal ganglia and or nigra Other organ iron accumulation Tremor (any or unspecified) Abnormal central motor function Dystonia, axial Rigidity Hand tremor Ferritin increased Other mri abnormality Dystonia (any or unspecified) Tremor, limb Retinopathy Diabetes mellitus Ataxia Postural tremor, upper limb Gait impairment Dystonia, cervical Postural tremor Dystonia, focal Cognitive impairment Show more (+19) |
n.a.
|