| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
IND
|
40
|
44
|
n.a.
|
Putaminal rim sign
Postural instability Dat spect: reduced striatal uptake Ataxia, limb Dysmetric saccades Ataxia Spect imaging d2 receptors: reduced uptake of striata Dysarthria Parkinsonism Bradykinesia Chorea Mental deterioration Gait ataxia Cerebellar atrophy Show more (+11) |
Ataxia
Chorea Mental deterioration |