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