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