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