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