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