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