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