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