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