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