Salih, 2013: Overview of all reported DYT/PARK-PLA2G6 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
B
|
SAU
|
5
|
19
|
n.a.
|
Optic atrophy
Psychiatric disorders Cerebellar atrophy Developmental regression NMS parkinsonism Abnormal central motor function Cerebellar signs Nystagmus Cognitive impairment Neuromuscular abnormality Show more (+7) |
n.a.
|
|
No
|
♀
|
B
|
SAU
|
1
|
10
|
n.a.
|
Tetraparesis
Abnormal central motor function Rigidity Dyskinesia Cerebellar atrophy Cognitive impairment Dystonia (any or unspecified) Optic atrophy Hyperreflexia Neuromuscular abnormality Cerebellar signs Mri brain other abnormalities Nystagmus Developmental regression Hypointensity on basal ganglia and or nigra Microcephaly Pyramidal sign Show more (+14) |
n.a.
|
|
Yes
|
♂
|
B
|
SAU
|
1
|
2
|
n.a.
|
Cognitive impairment
Developmental regression Psychiatric disorders Cerebellar signs Seizures Cerebellar atrophy Mri brain other abnormalities Hyperreflexia Nystagmus NMS parkinsonism Tetraparesis Pyramidal sign Abnormal central motor function Show more (+10) |
n.a.
|
|
No
|
♀
|
B
|
SAU
|
1
|
4
|
n.a.
|
Seizures
Pyramidal sign Rigidity Hyperreflexia Developmental regression Cerebellar atrophy Cognitive impairment Optic atrophy Hypointensity on basal ganglia and or nigra Mri brain other abnormalities Nystagmus Cerebellar signs Tetraparesis Abnormal central motor function Show more (+11) |
n.a.
|
|
Yes
|
♂
|
B
|
SAU
|
1
|
5
|
n.a.
|
Hyperreflexia
Nystagmus Developmental regression Pyramidal sign Tetraparesis Neuromuscular abnormality Cerebellar signs Cerebellar atrophy Cognitive impairment Hypointensity on basal ganglia and or nigra Optic atrophy Rigidity Abnormal central motor function Mri brain other abnormalities Show more (+11) |
n.a.
|
|
Yes
|
♂
|
B
|
SAU
|
1
|
10
|
No
|
Cerebellar signs
Hypointensity on basal ganglia and or nigra Pyramidal sign Mri brain other abnormalities Strabismus Nystagmus Bradykinesia Spasticity Cognitive impairment Hyperreflexia Developmental regression Cerebellar atrophy Abnormal central motor function Show more (+10) |
n.a.
|
|
No
|
♀
|
B
|
SAU
|
6
|
27
|
n.a.
|
Optic atrophy
Dystonia (any or unspecified) Hyperreflexia Seizures Neuromuscular abnormality Mri brain other abnormalities NMS parkinsonism Nystagmus Developmental regression Cerebellar atrophy Strabismus Rigidity Hypointensity on basal ganglia and or nigra Psychiatric disorders Cognitive impairment Pyramidal sign Dyskinesia Anxiety Abnormal central motor function Cerebellar signs Show more (+17) |
n.a.
|
|
Yes
|
♀
|
B
|
SAU
|
1
|
4
|
No
|
Hypointensity on basal ganglia and or nigra
Mri brain other abnormalities Hyperreflexia Cerebellar signs Pyramidal sign Nystagmus Cognitive impairment Tetraparesis Cerebellar atrophy Abnormal central motor function Microcephaly Developmental regression Strabismus Show more (+10) |
n.a.
|
|
Yes
|
♂
|
B
|
SAU
|
3
|
21
|
n.a.
|
Neuromuscular abnormality
Hypointensity on basal ganglia and or nigra Nystagmus Optic atrophy Developmental regression Cognitive impairment Abnormal central motor function Rigidity Cerebellar atrophy Cerebellar signs Show more (+7) |
n.a.
|
|
No
|
♀
|
B
|
SAU
|
6
|
20
|
n.a.
|
Anxiety
Neuromuscular abnormality Abnormal central motor function Strabismus Rigidity Cerebellar atrophy Hyperreflexia Pyramidal sign Nystagmus NMS parkinsonism Cognitive impairment Mri brain other abnormalities Psychiatric disorders Optic atrophy Cerebellar signs Developmental regression Hypointensity on basal ganglia and or nigra Show more (+14) |
n.a.
|