Inzelberg, 2018: Overview of all reported PARK-ATP13A2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
JA
n.a.
27
45
n.a.
Vertical gaze palsy
Rigidity
NMS parkinsonism
Minimyoclonus
Gait difficulties/falls
Cerebral atrophy
Dysarthria/anarthria
Cognitive decline
Spasticity/pyramidal signs
Atypical parkinsonism
Parkinsonism
Hallucinations
Bradykinesia
Saccadic abnormalities
Psychotic sign/sympt.
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Gait difficulties/falls
No
JA
n.a.
16
43
n.a.
Atypical parkinsonism
Cerebral atrophy
Bradykinesia
Rigidity
Seizures
NMS parkinsonism
Saccadic abnormalities
Behavioral abnormalities
Parkinsonism
Gait difficulties/falls
Minimyoclonus
Spasticity/pyramidal signs
Vertical gaze palsy
Dysarthria/anarthria
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Seizures