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