| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
FRA
|
23
|
30
|
n.a.
|
Cerebellar atrophy
Bradykinesia Gait ataxia Parkinsonism Behavioural abnormality Dysarthria Ataxia Olivopontocerebellar atrophy Pons atrophy Chorea Rigidity Show more (+8) |
Behavioural abnormality
Chorea |
|
Yes
|
♀
|
C
|
FRA
|
29
|
45
|
n.a.
|
Chorea
Behavioural abnormality Dysarthria Gait ataxia Ataxia Nystagmus Pons atrophy Cerebellar atrophy Show more (+5) |
Behavioural abnormality
|