McNeil-Gauthier, 2019: Overview of all reported MxMD-ATP13A2 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
CAN
|
n.a.
|
32
|
n.a.
|
Bradykinesia
Atypical parkinsonism Parkinsonism Intellectual developmental disorder Minimyoclonus Behavioral abnormalities Hyperreflexia Seizures NMS parkinsonism Developmental delay/intellectual disability Psychotic sign/sympt. Dysarthria/anarthria Spasticity/pyramidal signs Show more (+10) |
Developmental delay/intellectual disability
|