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