Ramirez, 2006: Overview of all reported PARK-ATP13A2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
JOR
12
31
n.a.
Dystonia
Saccadic abnormalities
Parkinsonism
Dyskinesia
Intellectual developmental disorder
Rigidity
Monotonous speech
Spasticity/pyramidal signs
Motor fluctuations
Oculogyric spasms
Hyperreflexia
Bradykinesia
Hypomimia
Minimyoclonus
Atypical parkinsonism
Cognitive decline
Vertical gaze palsy
Psychotic sign/sympt.
NMS parkinsonism
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Intellectual developmental disorder
Rigidity
Bradykinesia
No
n.a.
CHL
12
38
n.a.
Rigidity
Saccadic abnormalities
Primitive reflexes
Spasticity/pyramidal signs
Vertical gaze palsy
Parkinsonism
Minimyoclonus
Cognitive decline
Atypical parkinsonism
Bradykinesia
Tremor (any or unspecified)
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n.a.
No
n.a.
JOR
13
34
n.a.
Saccadic abnormalities
Hyperreflexia
Autonomic sign/sympt.
Psychotic sign/sympt.
Cognitive decline
Dyskinesia
Motor fluctuations
NMS parkinsonism
Monotonous speech
Dystonia
Bradykinesia
Oculogyric spasms
Rigidity
Atypical parkinsonism
Spasticity/pyramidal signs
Hypomimia
Vertical gaze palsy
Parkinsonism
Incontinence
Minimyoclonus
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Bradykinesia
Rigidity
No
n.a.
CHL
15
41
n.a.
Saccadic abnormalities
Parkinsonism
Minimyoclonus
Rigidity
Intellectual developmental disorder
Tremor (any or unspecified)
Bradykinesia
Vertical gaze palsy
Spasticity/pyramidal signs
Atypical parkinsonism
Primitive reflexes
Cognitive decline
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Intellectual developmental disorder
No
n.a.
CHL
17
43
n.a.
Hallucinations
Vertical gaze palsy
Primitive reflexes
Spasticity/pyramidal signs
NMS parkinsonism
Cognitive decline
Psychotic sign/sympt.
Atypical parkinsonism
Parkinsonism
Tremor (any or unspecified)
Bradykinesia
Rigidity
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Bradykinesia
Rigidity
No
n.a.
JOR
16
36
n.a.
Monotonous speech
Rigidity
Cognitive decline
Hypomimia
Atypical parkinsonism
Dysarthria/anarthria
Parkinsonism
Bradykinesia
Oculogyric spasms
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Bradykinesia
No
n.a.
JOR
12
23
n.a.
Spasticity/pyramidal signs
Psychotic sign/sympt.
Rigidity
Atypical parkinsonism
Dystonia
Monotonous speech
Vertical gaze palsy
NMS parkinsonism
Minimyoclonus
Hyperreflexia
Oculogyric spasms
Parkinsonism
Cognitive decline
Bradykinesia
Hypomimia
Saccadic abnormalities
Dyskinesia
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Rigidity
Bradykinesia
Yes
n.a.
CHL
18
45
n.a.
Primitive reflexes
Vertical gaze palsy
Minimyoclonus
Spasticity/pyramidal signs
Bradykinesia
Tremor (any or unspecified)
Parkinsonism
Hallucinations
Intellectual developmental disorder
Rigidity
NMS parkinsonism
Show more (+8)
Intellectual developmental disorder
No
n.a.
JOR
12
36
n.a.
NMS parkinsonism
Incontinence
Cognitive decline
Hypomimia
Hyperreflexia
Atypical parkinsonism
Autonomic sign/sympt.
Monotonous speech
Spasticity/pyramidal signs
Rigidity
Saccadic abnormalities
Parkinsonism
Vertical gaze palsy
Psychotic sign/sympt.
Bradykinesia
Minimyoclonus
Intellectual developmental disorder
Show more (+14)
Bradykinesia
Intellectual developmental disorder