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