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.
|
Intellectual developmental disorder
Oculogyric spasms Minimyoclonus Hypomimia Bradykinesia Atypical parkinsonism Motor fluctuations Rigidity Parkinsonism Saccadic abnormalities Dystonia Hyperreflexia Cognitive decline Dyskinesia Psychotic sign/sympt. Vertical gaze palsy Spasticity/pyramidal signs Monotonous speech NMS parkinsonism Show more (+16) |
Intellectual developmental disorder
Bradykinesia Rigidity |
|
No
|
♂
|
n.a.
|
CHL
|
12
|
38
|
n.a.
|
Tremor (any or unspecified)
Vertical gaze palsy Saccadic abnormalities Bradykinesia Parkinsonism Spasticity/pyramidal signs Primitive reflexes Atypical parkinsonism Minimyoclonus Cognitive decline Rigidity Show more (+8) |
n.a.
|
|
No
|
♂
|
n.a.
|
JOR
|
13
|
34
|
n.a.
|
Dyskinesia
Oculogyric spasms Bradykinesia Parkinsonism Incontinence Dystonia Cognitive decline Saccadic abnormalities Motor fluctuations Autonomic sign/sympt. NMS parkinsonism Psychotic sign/sympt. Spasticity/pyramidal signs Hyperreflexia Minimyoclonus Vertical gaze palsy Monotonous speech Rigidity Hypomimia Atypical parkinsonism Show more (+17) |
Bradykinesia
Rigidity |
|
No
|
♀
|
n.a.
|
CHL
|
15
|
41
|
n.a.
|
Vertical gaze palsy
Minimyoclonus Bradykinesia Saccadic abnormalities Atypical parkinsonism Spasticity/pyramidal signs Primitive reflexes Cognitive decline Tremor (any or unspecified) Intellectual developmental disorder Parkinsonism Rigidity Show more (+9) |
Intellectual developmental disorder
|
|
No
|
♂
|
n.a.
|
CHL
|
17
|
43
|
n.a.
|
Psychotic sign/sympt.
Atypical parkinsonism Cognitive decline Vertical gaze palsy NMS parkinsonism Bradykinesia Tremor (any or unspecified) Spasticity/pyramidal signs Parkinsonism Rigidity Primitive reflexes Hallucinations Show more (+9) |
Bradykinesia
Rigidity |
|
No
|
♂
|
n.a.
|
JOR
|
16
|
36
|
n.a.
|
Oculogyric spasms
Dysarthria/anarthria Cognitive decline Parkinsonism Hypomimia Monotonous speech Atypical parkinsonism Bradykinesia Rigidity Show more (+6) |
Bradykinesia
|
|
No
|
♀
|
n.a.
|
JOR
|
12
|
23
|
n.a.
|
Saccadic abnormalities
Psychotic sign/sympt. Monotonous speech Dyskinesia Oculogyric spasms NMS parkinsonism Parkinsonism Dystonia Atypical parkinsonism Bradykinesia Hyperreflexia Vertical gaze palsy Minimyoclonus Cognitive decline Rigidity Hypomimia Spasticity/pyramidal signs Show more (+14) |
Bradykinesia
Rigidity |
|
Yes
|
♂
|
n.a.
|
CHL
|
18
|
45
|
n.a.
|
Tremor (any or unspecified)
Minimyoclonus Rigidity Hallucinations Intellectual developmental disorder Vertical gaze palsy Primitive reflexes Spasticity/pyramidal signs Bradykinesia NMS parkinsonism Parkinsonism Show more (+8) |
Intellectual developmental disorder
|
|
No
|
♂
|
n.a.
|
JOR
|
12
|
36
|
n.a.
|
Cognitive decline
Monotonous speech Parkinsonism Minimyoclonus Vertical gaze palsy Hyperreflexia Intellectual developmental disorder Spasticity/pyramidal signs Hypomimia Saccadic abnormalities Rigidity Bradykinesia NMS parkinsonism Psychotic sign/sympt. Incontinence Autonomic sign/sympt. Atypical parkinsonism Show more (+14) |
Intellectual developmental disorder
Bradykinesia |