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