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
|
Dystonia (any or unspecified)
Dystonia, limb Cerebellar atrophy |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
40
|
49
|
n.a.
|
Spect imaging d2 receptors: reduced uptake of striata
Dat spect: reduced striatal uptake Ataxia Orofacial dyskinesia Behavioural abnormality Gait ataxia Ataxia, limb Chorea Dysarthria Bradykinesia Dysphagia Cerebral atrophy Rigidity Depression Parkinsonism Decreased striatal uptake in the fp-cit pet Mental deterioration Cerebellar atrophy Dyskinesia Show more (+16) |
Gait ataxia
Depression Mental deterioration |
|
Yes
|
♀
|
n.a.
|
n.a.
|
40
|
55
|
n.a.
|
Chorea
Spect imaging d2 receptors: reduced uptake of striata Cerebral atrophy Bradykinesia Ataxia Dyskinesia Orofacial dyskinesia Depression Gait ataxia Rigidity Dat spect: reduced striatal uptake Behavioural abnormality Dysarthria Parkinsonism Cerebellar atrophy Dysphagia Decreased striatal uptake in the fp-cit pet Mental deterioration Ataxia, limb Show more (+16) |
Depression
Gait ataxia Mental deterioration |