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