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