Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
JOR
|
12
|
31
|
n.a.
|
Dystonia
Saccadic abnormalities Parkinsonism Dyskinesia Intellectual developmental disorder Rigidity Monotonous speech Spasticity/pyramidal signs Motor fluctuations Oculogyric spasms Hyperreflexia Bradykinesia Hypomimia Minimyoclonus Atypical parkinsonism Cognitive decline Vertical gaze palsy Psychotic sign/sympt. NMS parkinsonism Show more (+16) |
Intellectual developmental disorder
Rigidity Bradykinesia |
|
No
|
♂
|
n.a.
|
CHL
|
12
|
38
|
n.a.
|
Rigidity
Saccadic abnormalities Primitive reflexes Spasticity/pyramidal signs Vertical gaze palsy Parkinsonism Minimyoclonus Cognitive decline Atypical parkinsonism Bradykinesia Tremor (any or unspecified) Show more (+8) |
n.a.
|
|
No
|
♂
|
n.a.
|
JOR
|
13
|
34
|
n.a.
|
Saccadic abnormalities
Hyperreflexia Autonomic sign/sympt. Psychotic sign/sympt. Cognitive decline Dyskinesia Motor fluctuations NMS parkinsonism Monotonous speech Dystonia Bradykinesia Oculogyric spasms Rigidity Atypical parkinsonism Spasticity/pyramidal signs Hypomimia Vertical gaze palsy Parkinsonism Incontinence Minimyoclonus Show more (+17) |
Bradykinesia
Rigidity |
|
No
|
♀
|
n.a.
|
CHL
|
15
|
41
|
n.a.
|
Saccadic abnormalities
Parkinsonism Minimyoclonus Rigidity Intellectual developmental disorder Tremor (any or unspecified) Bradykinesia Vertical gaze palsy Spasticity/pyramidal signs Atypical parkinsonism Primitive reflexes Cognitive decline Show more (+9) |
Intellectual developmental disorder
|
|
No
|
♂
|
n.a.
|
CHL
|
17
|
43
|
n.a.
|
Hallucinations
Vertical gaze palsy Primitive reflexes Spasticity/pyramidal signs NMS parkinsonism Cognitive decline Psychotic sign/sympt. Atypical parkinsonism Parkinsonism Tremor (any or unspecified) Bradykinesia Rigidity Show more (+9) |
Bradykinesia
Rigidity |
|
No
|
♂
|
n.a.
|
JOR
|
16
|
36
|
n.a.
|
Monotonous speech
Rigidity Cognitive decline Hypomimia Atypical parkinsonism Dysarthria/anarthria Parkinsonism Bradykinesia Oculogyric spasms Show more (+6) |
Bradykinesia
|
|
No
|
♀
|
n.a.
|
JOR
|
12
|
23
|
n.a.
|
Spasticity/pyramidal signs
Psychotic sign/sympt. Rigidity Atypical parkinsonism Dystonia Monotonous speech Vertical gaze palsy NMS parkinsonism Minimyoclonus Hyperreflexia Oculogyric spasms Parkinsonism Cognitive decline Bradykinesia Hypomimia Saccadic abnormalities Dyskinesia Show more (+14) |
Rigidity
Bradykinesia |
|
Yes
|
♂
|
n.a.
|
CHL
|
18
|
45
|
n.a.
|
Primitive reflexes
Vertical gaze palsy Minimyoclonus Spasticity/pyramidal signs Bradykinesia Tremor (any or unspecified) Parkinsonism Hallucinations Intellectual developmental disorder Rigidity NMS parkinsonism Show more (+8) |
Intellectual developmental disorder
|
|
No
|
♂
|
n.a.
|
JOR
|
12
|
36
|
n.a.
|
NMS parkinsonism
Incontinence Cognitive decline Hypomimia Hyperreflexia Atypical parkinsonism Autonomic sign/sympt. Monotonous speech Spasticity/pyramidal signs Rigidity Saccadic abnormalities Parkinsonism Vertical gaze palsy Psychotic sign/sympt. Bradykinesia Minimyoclonus Intellectual developmental disorder Show more (+14) |
Bradykinesia
Intellectual developmental disorder |