Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
ROU
|
7
|
7
|
No
|
Dystonia, foot
Dystonia, limb Dystonia (any or unspecified) Cerebellar signs Cognitive impairment Abnormal central motor function Mri brain other abnormalities Dysarthria Dystonia, focal Gait disturbance Cerebellar atrophy Pyramidal sign Show more (+9) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
MAR
|
4
|
4
|
No
|
Abnormal central motor function
Mri brain other abnormalities Parkinsonism Dysarthria Hyperreflexia Cerebellar signs Spasticity Cerebellar atrophy Pyramidal sign Cognitive impairment Bradykinesia Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
TUR
|
9
|
9
|
n.a.
|
Pyramidal sign
Tremor (any or unspecified) Spasticity Gait disturbance Hyperreflexia Tremor, intention Dysarthria Hypointensity on basal ganglia and or nigra Cerebellar signs Abnormal central motor function Show more (+7) |
n.a.
|
|
No
|
♂
|
n.a.
|
TUR
|
21
|
21
|
n.a.
|
Pyramidal sign
Cerebellar signs Hyperreflexia Abnormal central motor function Hypointensity on basal ganglia and or nigra Spasticity Rigidity Dysarthria Gait disturbance Show more (+6) |
n.a.
|