Vroegindeweij, 2017: 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
|
♂
|
C
|
NLD
|
48
|
50
|
n.a.
|
Dyskinesia
Abnormal central motor function Other mri abnormality Chorea Orofacial dyskinesia Gait impairment Bradykinesia Dystonia, generalized Dysarthria Postural instability Hypointensity on basal ganglia and or nigra Dystonia (any or unspecified) Parkinsonism Ataxia Show more (+11) |
Chorea
Orofacial dyskinesia Gait impairment |
|
No
|
♂
|
C
|
NLD
|
54
|
56
|
n.a.
|
Cognitive impairment
Abnormal central motor function Diabetes mellitus Bradykinesia Hypointensity on basal ganglia and or nigra Dysarthria Behavioral abnormality Gait impairment Depression Ataxia Postural instability Other mri abnormality Show more (+9) |
Dysarthria
Behavioral abnormality Gait impairment |
|
Yes
|
♀
|
C
|
NLD
|
51
|
59
|
No
|
Parkinsonism
Dyskinesia Depression Orofacial dyskinesia Anxiety NMS parkinsonism Hypointensity on basal ganglia and or nigra Ataxia Chorea Diabetes mellitus Cognitive impairment Other mri abnormality Bradykinesia Abnormal central motor function Anemia Dysarthria Postural instability Gait impairment Behavioral abnormality Show more (+16) |
Orofacial dyskinesia
|
|
Yes
|
♂
|
C
|
NLD
|
n.a.
|
56
|
n.a.
|
Cognitive impairment
Depression Diabetes mellitus Postural instability Dysarthria Parkinsonism Bradykinesia Ataxia NMS parkinsonism Behavioral abnormality Gait impairment Anemia Abnormal central motor function Show more (+10) |
Behavioral abnormality
|
|
Yes
|
♂
|
C
|
ITA
|
40
|
56
|
No
|
Anemia
Abnormal central motor function Hypointensity on basal ganglia and or nigra Ataxia Cognitive impairment Postural instability Gait impairment Diabetes mellitus Bradykinesia Parkinsonism Other mri abnormality NMS parkinsonism Dysarthria Show more (+10) |
Dysarthria
|