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