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