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