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