| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
37
|
n.a.
|
n.a.
|
Abnormality of eye movement
Behavioural abnormality Chorea Gait ataxia Myoclonus Ataxia Slow saccades Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
44
|
50
|
n.a.
|
Weight loss
Cerebellar atrophy Myoclonus Slow saccades Depression Abnormality of eye movement Gait ataxia Mental deterioration Chorea Dysarthria Postural instability Ataxia, limb Cerebral atrophy Motor impersistence Behavioural abnormality Oculomotor apraxia Ataxia Apathy Show more (+15) |
Gait ataxia
Chorea |
|
No
|
♀
|
n.a.
|
n.a.
|
45
|
n.a.
|
n.a.
|
n.a.
|