Ramirez, 2006: Overview of all reported PARK-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.
|
Rigidity
Hypomimia Psychotic sign/sympt. Oculogyric spasms Vertical gaze palsy Hyperreflexia Cognitive decline Monotonous speech NMS parkinsonism Motor fluctuations Saccadic abnormalities Minimyoclonus Parkinsonism Dyskinesia Bradykinesia Atypical parkinsonism Dystonia Intellectual developmental disorder Spasticity/pyramidal signs Show more (+16) |
Rigidity
Bradykinesia Intellectual developmental disorder |
|
No
|
♂
|
n.a.
|
CHL
|
12
|
38
|
n.a.
|
Tremor (any or unspecified)
Cognitive decline Primitive reflexes Saccadic abnormalities Atypical parkinsonism Vertical gaze palsy Parkinsonism Minimyoclonus Bradykinesia Spasticity/pyramidal signs Rigidity Show more (+8) |
n.a.
|
|
No
|
♂
|
n.a.
|
JOR
|
13
|
34
|
n.a.
|
Incontinence
Hypomimia Oculogyric spasms Dyskinesia Monotonous speech Parkinsonism Spasticity/pyramidal signs Bradykinesia Dystonia Psychotic sign/sympt. Rigidity Atypical parkinsonism Saccadic abnormalities Cognitive decline NMS parkinsonism Hyperreflexia Motor fluctuations Autonomic sign/sympt. Vertical gaze palsy Minimyoclonus Show more (+17) |
Bradykinesia
Rigidity |
|
No
|
♀
|
n.a.
|
CHL
|
15
|
41
|
n.a.
|
Cognitive decline
Intellectual developmental disorder Tremor (any or unspecified) Bradykinesia Vertical gaze palsy Rigidity Primitive reflexes Parkinsonism Minimyoclonus Saccadic abnormalities Atypical parkinsonism Spasticity/pyramidal signs Show more (+9) |
Intellectual developmental disorder
|
|
No
|
♂
|
n.a.
|
CHL
|
17
|
43
|
n.a.
|
Tremor (any or unspecified)
Cognitive decline Primitive reflexes Hallucinations Bradykinesia Parkinsonism NMS parkinsonism Psychotic sign/sympt. Spasticity/pyramidal signs Vertical gaze palsy Atypical parkinsonism Rigidity Show more (+9) |
Bradykinesia
Rigidity |
|
No
|
♂
|
n.a.
|
JOR
|
16
|
36
|
n.a.
|
Hypomimia
Atypical parkinsonism Bradykinesia Rigidity Parkinsonism Cognitive decline Monotonous speech Dysarthria/anarthria Oculogyric spasms Show more (+6) |
Bradykinesia
|
|
No
|
♀
|
n.a.
|
JOR
|
12
|
23
|
n.a.
|
NMS parkinsonism
Minimyoclonus Parkinsonism Vertical gaze palsy Monotonous speech Dystonia Cognitive decline Spasticity/pyramidal signs Rigidity Atypical parkinsonism Psychotic sign/sympt. Bradykinesia Saccadic abnormalities Dyskinesia Hypomimia Oculogyric spasms Hyperreflexia Show more (+14) |
Rigidity
Bradykinesia |
|
Yes
|
♂
|
n.a.
|
CHL
|
18
|
45
|
n.a.
|
Tremor (any or unspecified)
Intellectual developmental disorder Spasticity/pyramidal signs Minimyoclonus Rigidity Parkinsonism Bradykinesia Primitive reflexes Vertical gaze palsy Hallucinations NMS parkinsonism Show more (+8) |
Intellectual developmental disorder
|
|
No
|
♂
|
n.a.
|
JOR
|
12
|
36
|
n.a.
|
Cognitive decline
Saccadic abnormalities Atypical parkinsonism Autonomic sign/sympt. Vertical gaze palsy Parkinsonism Incontinence Minimyoclonus Hypomimia Intellectual developmental disorder Monotonous speech Spasticity/pyramidal signs Hyperreflexia Bradykinesia NMS parkinsonism Psychotic sign/sympt. Rigidity Show more (+14) |
Intellectual developmental disorder
Bradykinesia |