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