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