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