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