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