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.
n.a.: het
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
n.a.: het
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
n.a.: het