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.
Atypical parkinsonism
Developmental delay/intellectual disability
Dysarthria/anarthria
NMS parkinsonism
Bradykinesia
Spasticity/pyramidal signs
Behavioral abnormalities
Seizures
Minimyoclonus
Hyperreflexia
Psychotic sign/sympt.
Intellectual developmental disorder
Parkinsonism
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Developmental delay/intellectual disability