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