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