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