| 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.
|
Ataxia
Gait ataxia Cerebellar atrophy Autonomic dysfunction Mental deterioration Chorea Dysarthria Putaminal rim sign Ataxia, limb Dysmetric saccades Show more (+7) |
Gait ataxia
Mental deterioration Chorea |
|
Yes
|
♀
|
n.a.
|
n.a.
|
45
|
52
|
n.a.
|
Dysarthria
Chorea Postural tremor, upper limb Gait disturbance Gait ataxia Ataxia, limb Bradykinesia Ataxia Parkinsonism Behavioural abnormality Dysmetric saccades Mental deterioration Show more (+9) |
Gait ataxia
Behavioural abnormality Mental deterioration |
|
Yes
|
♀
|
n.a.
|
n.a.
|
44
|
49
|
n.a.
|
Depression
Parkinsonism Dysarthria Behavioural abnormality Gait ataxia Ataxia Dysmetric saccades Cerebral atrophy Chorea Postural instability Myoclonus Bradykinesia Cerebellar atrophy Mental deterioration Show more (+11) |
Dysarthria
Behavioural abnormality Gait ataxia |
|
Yes
|
♀
|
n.a.
|
n.a.
|
40
|
n.a.
|
n.a.
|
Dystonia, limb
Gait ataxia Chorea Slow saccades Dysarthria Dysmetric saccades Postural instability Bradykinesia Depression Cerebral atrophy Ataxia Supranuclear gaze palsy Wheelchair Dysphagia Dystonia (any or unspecified) Mental deterioration Parkinsonism Show more (+14) |
Gait ataxia
Chorea Ataxia |
|
Yes
|
♂
|
n.a.
|
n.a.
|
37
|
54
|
n.a.
|
Gait ataxia
Mental deterioration Cerebral atrophy Behavioural abnormality Bradykinesia Ataxia Dysarthria Ataxia, limb Chorea Parkinsonism Dysmetric saccades Cerebellar atrophy Show more (+9) |
Behavioural abnormality
Chorea |