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