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