| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
O
|
GRC
|
25
|
30
|
n.a.
|
Seizures
Rigidity Atrophy/degeneration affecting the brainstem Ataxia Gait ataxia Dystonia, cervical Dysarthria Dystonia, limb Cerebellar atrophy Ataxia, limb Dysmetric saccades Dystonia (any or unspecified) Cerebral atrophy Chorea Mental deterioration Show more (+12) |
Gait ataxia
Ataxia, limb Mental deterioration |
|
No
|
♀
|
O
|
GRC
|
22
|
34
|
n.a.
|
Mental deterioration
Cerebellar atrophy Depression Behavioural abnormality Dysarthria Rigidity Ataxia, limb Gait ataxia Atrophy/degeneration affecting the brainstem Ataxia Show more (+7) |
Gait ataxia
|