| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
ESP
|
n.a.
|
49
|
n.a.
|
Nystagmus
Dysphagia Camptocormia Postural instability Putaminal rim sign Mental deterioration Spasticity Sensation alterations Dystonia (any or unspecified) Cerebellar atrophy Autonomic dysfunction Pain Show more (+9) |
Camptocormia
Pain |