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