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