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