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