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.
|
Neuromuscular abnormality
Cognitive impairment Optic atrophy NMS parkinsonism Cerebellar atrophy Developmental regression Cerebellar signs Psychiatric disorders Abnormal central motor function Nystagmus Show more (+7) |
n.a.
|
|
No
|
♀
|
B
|
SAU
|
1
|
10
|
n.a.
|
Hypointensity on basal ganglia and or nigra
Pyramidal sign Dyskinesia Abnormal central motor function Optic atrophy Cerebellar signs Neuromuscular abnormality Nystagmus Hyperreflexia Rigidity Cognitive impairment Cerebellar atrophy Developmental regression Dystonia (any or unspecified) Microcephaly Mri brain other abnormalities Tetraparesis Show more (+14) |
n.a.
|
|
Yes
|
♂
|
B
|
SAU
|
1
|
2
|
n.a.
|
Developmental regression
Cognitive impairment Pyramidal sign Mri brain other abnormalities Cerebellar signs Cerebellar atrophy Tetraparesis Abnormal central motor function Seizures Nystagmus Psychiatric disorders Hyperreflexia NMS parkinsonism Show more (+10) |
n.a.
|
|
No
|
♀
|
B
|
SAU
|
1
|
4
|
n.a.
|
Seizures
Developmental regression Hyperreflexia Pyramidal sign Nystagmus Optic atrophy Cognitive impairment Cerebellar signs Rigidity Tetraparesis Mri brain other abnormalities Abnormal central motor function Cerebellar atrophy Hypointensity on basal ganglia and or nigra Show more (+11) |
n.a.
|
|
Yes
|
♂
|
B
|
SAU
|
1
|
5
|
n.a.
|
Mri brain other abnormalities
Cerebellar atrophy Optic atrophy Cerebellar signs Neuromuscular abnormality Cognitive impairment Hyperreflexia Pyramidal sign Tetraparesis Abnormal central motor function Developmental regression Nystagmus Hypointensity on basal ganglia and or nigra Rigidity Show more (+11) |
n.a.
|
|
Yes
|
♂
|
B
|
SAU
|
1
|
10
|
No
|
Nystagmus
Developmental regression Strabismus Abnormal central motor function Cerebellar atrophy Mri brain other abnormalities Hypointensity on basal ganglia and or nigra Cerebellar signs Pyramidal sign Hyperreflexia Cognitive impairment Bradykinesia Spasticity Show more (+10) |
n.a.
|
|
No
|
♀
|
B
|
SAU
|
6
|
27
|
n.a.
|
Mri brain other abnormalities
Rigidity Seizures Hyperreflexia Cerebellar signs Nystagmus Dyskinesia Hypointensity on basal ganglia and or nigra Optic atrophy Abnormal central motor function Strabismus Neuromuscular abnormality Anxiety Cerebellar atrophy Developmental regression NMS parkinsonism Pyramidal sign Psychiatric disorders Cognitive impairment Dystonia (any or unspecified) Show more (+17) |
n.a.
|
|
Yes
|
♀
|
B
|
SAU
|
1
|
4
|
No
|
Mri brain other abnormalities
Abnormal central motor function Pyramidal sign Hypointensity on basal ganglia and or nigra Tetraparesis Cerebellar signs Nystagmus Strabismus Hyperreflexia Cognitive impairment Cerebellar atrophy Microcephaly Developmental regression Show more (+10) |
n.a.
|
|
Yes
|
♂
|
B
|
SAU
|
3
|
21
|
n.a.
|
Rigidity
Cognitive impairment Neuromuscular abnormality Hypointensity on basal ganglia and or nigra Nystagmus Abnormal central motor function Optic atrophy Cerebellar signs Cerebellar atrophy Developmental regression Show more (+7) |
n.a.
|
|
No
|
♀
|
B
|
SAU
|
6
|
20
|
n.a.
|
Pyramidal sign
Hypointensity on basal ganglia and or nigra Rigidity Neuromuscular abnormality Abnormal central motor function Anxiety Cerebellar atrophy NMS parkinsonism Strabismus Cognitive impairment Nystagmus Cerebellar signs Developmental regression Optic atrophy Mri brain other abnormalities Psychiatric disorders Hyperreflexia Show more (+14) |
n.a.
|