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