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