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