Pietrzak, 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
C
POL
1
28
n.a.
Hypomimia
Parkinsonism
Intellectual developmental disorder
Psychotic sign/sympt.
Vertical gaze palsy
Spasticity/pyramidal signs
Atypical parkinsonism
Developmental delay/intellectual disability
Gait difficulties/falls
Bradykinesia
Minimyoclonus
Cerebral atrophy
Dysarthria/anarthria
Swallowing disorder
Hyperreflexia
Tremor (any or unspecified)
Saccadic abnormalities
Cognitive decline
Hallucinations
Rigidity
Dysphagia
Primitive reflexes
Show more (+19)
n.a.