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