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