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