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