| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
n.a.
|
No
|
Vertical gaze palsy
Dysarthria/anarthria Scoliosis Saccadic abnormalities Intellectual developmental disorder Chorea Swallowing disorder Atypical parkinsonism Rigidity Parkinsonism Gait difficulties/falls Jerky pursuit Hypomimia Cognitive decline Bradykinesia Show more (+12) |
Intellectual developmental disorder
Swallowing disorder Gait difficulties/falls |