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