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