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