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