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.
|
Minimyoclonus
Developmental delay/intellectual disability Seizures NMS parkinsonism Spasticity/pyramidal signs Dysarthria/anarthria Atypical parkinsonism Hyperreflexia Bradykinesia Psychotic sign/sympt. Behavioral abnormalities Parkinsonism Intellectual developmental disorder Show more (+10) |
Developmental delay/intellectual disability
|