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