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