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