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