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