| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
n.a.
|
23
|
n.a.
|
n.a.
|
Anxiety
Mental deterioration Cerebellar atrophy Spasticity Dysphagia Mutism Seizures Behavioural abnormality Ataxia, limb Slow saccades Pons atrophy Cerebral atrophy Dysarthria Gait ataxia Ataxia Show more (+12) |
Ataxia
|