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