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