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