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.
|
Other mri abnormality
Ataxia Iron disadvantage Other organ iron accumulation Ferritin increased Retinopathy Hypomimic face Postural tremor, upper limb Hypointensity on basal ganglia and or nigra Diabetes mellitus Decreased or absent cerulplasmin Abnormal central motor function Tremor (any or unspecified) Show more (+10) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
47
|
n.a.
|
Ferritin increased
Gait impairment Decreased or absent cerulplasmin Diabetes mellitus Hypointensity on basal ganglia and or nigra Other mri abnormality Iron disadvantage Abnormal central motor function Ataxia Tremor, intention Retinopathy Postural instability Other organ iron accumulation Dysarthria Show more (+11) |
n.a.
|