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