| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
40
|
48
|
n.a.
|
Cerebellar atrophy
Autonomic dysfunction Mental deterioration Dysmetric saccades Putaminal rim sign Ataxia, limb Chorea Dysarthria Gait ataxia Ataxia Show more (+7) |
Mental deterioration
Chorea Gait ataxia |
|
Yes
|
♀
|
n.a.
|
n.a.
|
45
|
52
|
n.a.
|
Bradykinesia
Chorea Dysmetric saccades Ataxia Parkinsonism Dysarthria Ataxia, limb Gait ataxia Behavioural abnormality Postural tremor, upper limb Mental deterioration Gait disturbance Show more (+9) |
Gait ataxia
Behavioural abnormality Mental deterioration |
|
Yes
|
♀
|
n.a.
|
n.a.
|
44
|
49
|
n.a.
|
Cerebral atrophy
Parkinsonism Dysmetric saccades Postural instability Mental deterioration Cerebellar atrophy Gait ataxia Depression Dysarthria Chorea Ataxia Bradykinesia Myoclonus Behavioural abnormality Show more (+11) |
Gait ataxia
Dysarthria Behavioural abnormality |
|
Yes
|
♀
|
n.a.
|
n.a.
|
40
|
n.a.
|
n.a.
|
Gait ataxia
Parkinsonism Dystonia, limb Slow saccades Ataxia Dysarthria Wheelchair Dysphagia Chorea Postural instability Bradykinesia Supranuclear gaze palsy Dysmetric saccades Mental deterioration Dystonia (any or unspecified) Depression Cerebral atrophy Show more (+14) |
Gait ataxia
Ataxia Chorea |
|
Yes
|
♂
|
n.a.
|
n.a.
|
37
|
54
|
n.a.
|
Ataxia, limb
Chorea Mental deterioration Behavioural abnormality Cerebellar atrophy Dysmetric saccades Gait ataxia Parkinsonism Dysarthria Cerebral atrophy Bradykinesia Ataxia Show more (+9) |
Chorea
Behavioural abnormality |