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