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