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