Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
NLD
|
48
|
50
|
n.a.
|
Dyskinesia
Abnormal central motor function Bradykinesia Dysarthria Parkinsonism Orofacial dyskinesia Chorea Gait impairment Hypointensity on basal ganglia and or nigra Dystonia (any or unspecified) Postural instability Other mri abnormality Dystonia, generalized Ataxia Show more (+11) |
Orofacial dyskinesia
Chorea Gait impairment |
|
No
|
♂
|
C
|
NLD
|
54
|
56
|
n.a.
|
Behavioral abnormality
Depression Diabetes mellitus Abnormal central motor function Dysarthria Ataxia Gait impairment Cognitive impairment Bradykinesia Hypointensity on basal ganglia and or nigra Postural instability Other mri abnormality Show more (+9) |
Behavioral abnormality
Dysarthria Gait impairment |
|
Yes
|
♀
|
C
|
NLD
|
51
|
59
|
No
|
Hypointensity on basal ganglia and or nigra
Ataxia Behavioral abnormality Gait impairment Anemia Abnormal central motor function Bradykinesia Cognitive impairment Orofacial dyskinesia Other mri abnormality Postural instability Parkinsonism Depression Anxiety Dyskinesia Dysarthria Diabetes mellitus Chorea NMS parkinsonism Show more (+16) |
Orofacial dyskinesia
|
|
Yes
|
♂
|
C
|
NLD
|
n.a.
|
56
|
n.a.
|
Anemia
Depression Abnormal central motor function Behavioral abnormality Gait impairment Cognitive impairment Bradykinesia Diabetes mellitus Ataxia Postural instability NMS parkinsonism Parkinsonism Dysarthria Show more (+10) |
Behavioral abnormality
|
|
Yes
|
♂
|
C
|
ITA
|
40
|
56
|
No
|
Cognitive impairment
Hypointensity on basal ganglia and or nigra Postural instability Bradykinesia Dysarthria Other mri abnormality Anemia Gait impairment NMS parkinsonism Ataxia Parkinsonism Abnormal central motor function Diabetes mellitus Show more (+10) |
Dysarthria
|