Finkenstedt, 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 |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
39
|
n.a.
|
Ferritin increased
Abnormal central motor function Ataxia Retinopathy Decreased or absent cerulplasmin Hypomimic face Postural tremor, upper limb Diabetes mellitus Iron disadvantage Other mri abnormality Other organ iron accumulation Hypointensity on basal ganglia and or nigra Tremor (any or unspecified) Show more (+10) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
47
|
n.a.
|
Ferritin increased
Hypointensity on basal ganglia and or nigra Decreased or absent cerulplasmin Postural instability Dysarthria Iron disadvantage Tremor, intention Abnormal central motor function Other mri abnormality Ataxia Retinopathy Other organ iron accumulation Gait impairment Diabetes mellitus Show more (+11) |
n.a.
|