| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ITA
|
2
|
17
|
No
|
Bradykinesia
Dysarthria Developmental regression Intellectual developmental disorder Developmental delay Postural instability Delayed motor development Parkinsonism Cognitive impairment Hyperreflexia Dystonia/Parkinsonism Gait difficulties Dyskinesia Dystonia (any or unspecified) Myoclonus Residual motor signs Spasticity Oculogyric crisis Show more (+15) |
n.a.
|