Haubenberger, 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.
IND
40
44
n.a.
Dysmetric saccades
Dysarthria
Postural instability
Bradykinesia
Chorea
Mental deterioration
Parkinsonism
Ataxia, limb
Spect imaging d2 receptors: reduced uptake of striata
Dat spect: reduced striatal uptake
Putaminal rim sign
Cerebellar atrophy
Ataxia
Gait ataxia
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Chorea
Mental deterioration
Ataxia
n.a.: het