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