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