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