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