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