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