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