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