Salvatore, 2006: 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.
|
n.a.
|
28
|
No
|
Cerebellar atrophy
Dystonia, limb Dystonia (any or unspecified) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
40
|
49
|
n.a.
|
Ataxia
Cerebellar atrophy Gait ataxia Cerebral atrophy Behavioural abnormality Dat spect: reduced striatal uptake Ataxia, limb Parkinsonism Bradykinesia Orofacial dyskinesia Dyskinesia Chorea Spect imaging d2 receptors: reduced uptake of striata Dysarthria Depression Mental deterioration Decreased striatal uptake in the fp-cit pet Rigidity Dysphagia Show more (+16) |
Gait ataxia
Depression Mental deterioration |
|
Yes
|
♀
|
n.a.
|
n.a.
|
40
|
55
|
n.a.
|
Bradykinesia
Dysarthria Cerebral atrophy Chorea Ataxia Behavioural abnormality Orofacial dyskinesia Ataxia, limb Decreased striatal uptake in the fp-cit pet Spect imaging d2 receptors: reduced uptake of striata Mental deterioration Depression Dysphagia Rigidity Parkinsonism Dat spect: reduced striatal uptake Gait ataxia Cerebellar atrophy Dyskinesia Show more (+16) |
Mental deterioration
Depression Gait ataxia |