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