| 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.
|
Dystonia (any or unspecified)
Spasticity Nystagmus Dysphagia Postural instability Cerebellar atrophy Putaminal rim sign Pain Camptocormia Sensation alterations Autonomic dysfunction Mental deterioration Show more (+9) |
Pain
Camptocormia |