| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
n.a.
|
42
|
50
|
n.a.
|
Abnormality of ocular smooth pursuit
Dysmetric saccades Dysarthria Dystonia (any or unspecified) Chorea Mental deterioration Motor impersistence Gait ataxia Postural instability Putaminal rim sign Cerebellar atrophy Dystonia, limb Ataxia Show more (+10) |
Dysarthria
Chorea Postural instability |