Wild, 2008: Overview of all reported ATX-TBP patients
| 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.
|
Cerebellar atrophy
Gait ataxia Ataxia, limb Putaminal rim sign Ataxia Dysmetric saccades Dysarthria Chorea Autonomic dysfunction Mental deterioration Show more (+7) |
Gait ataxia
Chorea Mental deterioration |
|
Yes
|
♀
|
n.a.
|
n.a.
|
45
|
52
|
n.a.
|
Chorea
Postural tremor, upper limb Dysmetric saccades Mental deterioration Parkinsonism Gait ataxia Ataxia Dysarthria Ataxia, limb Behavioural abnormality Gait disturbance Bradykinesia Show more (+9) |
Mental deterioration
Gait ataxia Behavioural abnormality |
|
Yes
|
♀
|
n.a.
|
n.a.
|
44
|
49
|
n.a.
|
Mental deterioration
Myoclonus Cerebral atrophy Chorea Behavioural abnormality Ataxia Postural instability Gait ataxia Dysmetric saccades Cerebellar atrophy Depression Bradykinesia Parkinsonism Dysarthria Show more (+11) |
Behavioural abnormality
Gait ataxia Dysarthria |
|
Yes
|
♀
|
n.a.
|
n.a.
|
40
|
n.a.
|
n.a.
|
Chorea
Parkinsonism Mental deterioration Bradykinesia Gait ataxia Supranuclear gaze palsy Slow saccades Dystonia, limb Depression Cerebral atrophy Dysmetric saccades Postural instability Wheelchair Dysarthria Ataxia Dystonia (any or unspecified) Dysphagia Show more (+14) |
Chorea
Gait ataxia Ataxia |
|
Yes
|
♂
|
n.a.
|
n.a.
|
37
|
54
|
n.a.
|
Cerebral atrophy
Dysmetric saccades Behavioural abnormality Parkinsonism Dysarthria Ataxia Ataxia, limb Gait ataxia Chorea Bradykinesia Mental deterioration Cerebellar atrophy Show more (+9) |
Behavioural abnormality
Chorea |