Ramirez, 2006: Overview of all reported MxMD-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.
Parkinsonism
Minimyoclonus
Intellectual developmental disorder
Dystonia
NMS parkinsonism
Cognitive decline
Dyskinesia
Hypomimia
Monotonous speech
Psychotic sign/sympt.
Hyperreflexia
Bradykinesia
Atypical parkinsonism
Vertical gaze palsy
Oculogyric spasms
Saccadic abnormalities
Rigidity
Motor fluctuations
Spasticity/pyramidal signs
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Intellectual developmental disorder
Bradykinesia
Rigidity
No
n.a.
CHL
12
38
n.a.
Primitive reflexes
Vertical gaze palsy
Rigidity
Saccadic abnormalities
Minimyoclonus
Spasticity/pyramidal signs
Cognitive decline
Atypical parkinsonism
Parkinsonism
Bradykinesia
Tremor (any or unspecified)
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n.a.
No
n.a.
JOR
13
34
n.a.
Atypical parkinsonism
Oculogyric spasms
Saccadic abnormalities
Spasticity/pyramidal signs
Motor fluctuations
Rigidity
Bradykinesia
Vertical gaze palsy
Parkinsonism
Incontinence
Cognitive decline
Minimyoclonus
NMS parkinsonism
Hypomimia
Monotonous speech
Psychotic sign/sympt.
Dystonia
Dyskinesia
Hyperreflexia
Autonomic sign/sympt.
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Rigidity
Bradykinesia
No
n.a.
CHL
15
41
n.a.
Tremor (any or unspecified)
Vertical gaze palsy
Parkinsonism
Cognitive decline
Intellectual developmental disorder
Bradykinesia
Atypical parkinsonism
Minimyoclonus
Saccadic abnormalities
Spasticity/pyramidal signs
Primitive reflexes
Rigidity
Show more (+9)
Intellectual developmental disorder
No
n.a.
CHL
17
43
n.a.
Primitive reflexes
Cognitive decline
Parkinsonism
Hallucinations
Tremor (any or unspecified)
Atypical parkinsonism
Rigidity
NMS parkinsonism
Spasticity/pyramidal signs
Vertical gaze palsy
Psychotic sign/sympt.
Bradykinesia
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Rigidity
Bradykinesia
No
n.a.
JOR
16
36
n.a.
Bradykinesia
Hypomimia
Cognitive decline
Monotonous speech
Parkinsonism
Oculogyric spasms
Rigidity
Atypical parkinsonism
Dysarthria/anarthria
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Bradykinesia
No
n.a.
JOR
12
23
n.a.
Hypomimia
Atypical parkinsonism
Dystonia
Monotonous speech
Bradykinesia
NMS parkinsonism
Minimyoclonus
Oculogyric spasms
Rigidity
Cognitive decline
Vertical gaze palsy
Saccadic abnormalities
Psychotic sign/sympt.
Hyperreflexia
Parkinsonism
Spasticity/pyramidal signs
Dyskinesia
Show more (+14)
Bradykinesia
Rigidity
Yes
n.a.
CHL
18
45
n.a.
Hallucinations
Intellectual developmental disorder
Rigidity
Vertical gaze palsy
NMS parkinsonism
Parkinsonism
Minimyoclonus
Tremor (any or unspecified)
Spasticity/pyramidal signs
Bradykinesia
Primitive reflexes
Show more (+8)
Intellectual developmental disorder
No
n.a.
JOR
12
36
n.a.
Rigidity
Hypomimia
Parkinsonism
Cognitive decline
Autonomic sign/sympt.
NMS parkinsonism
Bradykinesia
Spasticity/pyramidal signs
Minimyoclonus
Intellectual developmental disorder
Incontinence
Vertical gaze palsy
Monotonous speech
Saccadic abnormalities
Atypical parkinsonism
Hyperreflexia
Psychotic sign/sympt.
Show more (+14)
Bradykinesia
Intellectual developmental disorder