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