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