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