| 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)
Cerebral atrophy Rigidity Dysarthria Ataxia Dystonia, limb Dysmetric saccades Ataxia, limb Chorea Mental deterioration Cerebellar atrophy Gait ataxia Dystonia, cervical Atrophy/degeneration affecting the brainstem Seizures Show more (+12) |
Ataxia, limb
Mental deterioration Gait ataxia |
|
No
|
♀
|
O
|
GRC
|
22
|
34
|
n.a.
|
Ataxia, limb
Dysarthria Gait ataxia Atrophy/degeneration affecting the brainstem Depression Behavioural abnormality Cerebellar atrophy Rigidity Ataxia Mental deterioration Show more (+7) |
Gait ataxia
|