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