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