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