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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
No
n.a.
JOR
12
36
Yes
Bradykinesia
Parkinsonism
Myoclonus
Gaze palsy
Hyperreflexia
Saccadic abnormalities
NMS parkinsonism symptoms
Incontinence
Autonomic sign/sympt.
Cognitive decline
Psychotic sign/sympt.
Hypomimia
Intellectual developmental disorder
Rigidity
Atypical parkinsonism
Spasticity/pyramidal signs
Show more (+13)
Bradykinesia
Intellectual developmental disorder
No
n.a.
JOR
12
23
Yes
Hypomimia
Spasticity/pyramidal signs
Hyperreflexia
Cognitive decline
Oculogyric spasms
Parkinsonism
Dystonia
Gaze palsy
Rigidity
NMS parkinsonism symptoms
Psychotic sign/sympt.
Bradykinesia
Saccadic abnormalities
Dyskinesia
Atypical parkinsonism
Myoclonus
Show more (+13)
Rigidity
Bradykinesia
No
n.a.
JOR
13
34
Yes
Dystonia
Bradykinesia
Cognitive decline
Gaze palsy
Myoclonus
Dyskinesia
Atypical parkinsonism
Hyperreflexia
Hypomimia
Parkinsonism
NMS parkinsonism symptoms
Autonomic sign/sympt.
Incontinence
Oculogyric spasms
Psychotic sign/sympt.
Motor fluctuations
Saccadic abnormalities
Spasticity/pyramidal signs
Rigidity
Show more (+16)
Bradykinesia
Rigidity
No
n.a.
CHL
12
38
Yes
Myoclonus
Parkinsonism
Cognitive decline
Gaze palsy
Tremor (any or unspecified)
Rigidity
Primitive reflexes
Saccadic abnormalities
Spasticity/pyramidal signs
Atypical parkinsonism
Bradykinesia
Show more (+8)
n.a.
Yes
n.a.
JOR
12
31
Yes
Intellectual developmental disorder
Dyskinesia
Hypomimia
Parkinsonism
Cognitive decline
Hyperreflexia
Myoclonus
Oculogyric spasms
Psychotic sign/sympt.
Dystonia
Gaze palsy
Atypical parkinsonism
Saccadic abnormalities
Bradykinesia
NMS parkinsonism symptoms
Rigidity
Motor fluctuations
Spasticity/pyramidal signs
Show more (+15)
Intellectual developmental disorder
Bradykinesia
Rigidity
No
n.a.
CHL
15
41
Yes
Cognitive decline
Primitive reflexes
Atypical parkinsonism
Saccadic abnormalities
Bradykinesia
Rigidity
Spasticity/pyramidal signs
Myoclonus
Gaze palsy
Tremor (any or unspecified)
Parkinsonism
Intellectual developmental disorder
Show more (+9)
Intellectual developmental disorder
No
n.a.
CHL
17
43
Yes
Gaze palsy
NMS parkinsonism symptoms
Parkinsonism
Spasticity/pyramidal signs
Cognitive decline
Hallucinations
Bradykinesia
Psychotic sign/sympt.
Rigidity
Atypical parkinsonism
Primitive reflexes
Tremor (any or unspecified)
Show more (+9)
Bradykinesia
Rigidity
Yes
n.a.
CHL
18
45
Yes
Primitive reflexes
Spasticity/pyramidal signs
Tremor (any or unspecified)
Gaze palsy
Bradykinesia
Hallucinations
Rigidity
Intellectual developmental disorder
Parkinsonism
Myoclonus
NMS parkinsonism symptoms
Show more (+8)
Intellectual developmental disorder
No
n.a.
JOR
16
36
Yes
Oculogyric spasms
Bradykinesia
Cognitive decline
Atypical parkinsonism
Dysarthria anarthria
Parkinsonism
Rigidity
Hypomimia
Show more (+5)
Bradykinesia