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