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