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.
Neuromuscular abnormality
Cognitive impairment
Optic atrophy
NMS parkinsonism
Cerebellar atrophy
Developmental regression
Cerebellar signs
Psychiatric disorders
Abnormal central motor function
Nystagmus
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n.a.
No
B
SAU
1
10
n.a.
Hypointensity on basal ganglia and or nigra
Pyramidal sign
Dyskinesia
Abnormal central motor function
Optic atrophy
Cerebellar signs
Neuromuscular abnormality
Nystagmus
Hyperreflexia
Rigidity
Cognitive impairment
Cerebellar atrophy
Developmental regression
Dystonia (any or unspecified)
Microcephaly
Mri brain other abnormalities
Tetraparesis
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n.a.
Yes
B
SAU
1
2
n.a.
Developmental regression
Cognitive impairment
Pyramidal sign
Mri brain other abnormalities
Cerebellar signs
Cerebellar atrophy
Tetraparesis
Abnormal central motor function
Seizures
Nystagmus
Psychiatric disorders
Hyperreflexia
NMS parkinsonism
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n.a.
No
B
SAU
1
4
n.a.
Seizures
Developmental regression
Hyperreflexia
Pyramidal sign
Nystagmus
Optic atrophy
Cognitive impairment
Cerebellar signs
Rigidity
Tetraparesis
Mri brain other abnormalities
Abnormal central motor function
Cerebellar atrophy
Hypointensity on basal ganglia and or nigra
Show more (+11)
n.a.
Yes
B
SAU
1
5
n.a.
Mri brain other abnormalities
Cerebellar atrophy
Optic atrophy
Cerebellar signs
Neuromuscular abnormality
Cognitive impairment
Hyperreflexia
Pyramidal sign
Tetraparesis
Abnormal central motor function
Developmental regression
Nystagmus
Hypointensity on basal ganglia and or nigra
Rigidity
Show more (+11)
n.a.
Yes
B
SAU
1
10
No
Nystagmus
Developmental regression
Strabismus
Abnormal central motor function
Cerebellar atrophy
Mri brain other abnormalities
Hypointensity on basal ganglia and or nigra
Cerebellar signs
Pyramidal sign
Hyperreflexia
Cognitive impairment
Bradykinesia
Spasticity
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n.a.
No
B
SAU
6
27
n.a.
Mri brain other abnormalities
Rigidity
Seizures
Hyperreflexia
Cerebellar signs
Nystagmus
Dyskinesia
Hypointensity on basal ganglia and or nigra
Optic atrophy
Abnormal central motor function
Strabismus
Neuromuscular abnormality
Anxiety
Cerebellar atrophy
Developmental regression
NMS parkinsonism
Pyramidal sign
Psychiatric disorders
Cognitive impairment
Dystonia (any or unspecified)
Show more (+17)
n.a.
Yes
B
SAU
1
4
No
Mri brain other abnormalities
Abnormal central motor function
Pyramidal sign
Hypointensity on basal ganglia and or nigra
Tetraparesis
Cerebellar signs
Nystagmus
Strabismus
Hyperreflexia
Cognitive impairment
Cerebellar atrophy
Microcephaly
Developmental regression
Show more (+10)
n.a.
p.Arg645*: hom
Yes
B
SAU
3
21
n.a.
Rigidity
Cognitive impairment
Neuromuscular abnormality
Hypointensity on basal ganglia and or nigra
Nystagmus
Abnormal central motor function
Optic atrophy
Cerebellar signs
Cerebellar atrophy
Developmental regression
Show more (+7)
n.a.
No
B
SAU
6
20
n.a.
Pyramidal sign
Hypointensity on basal ganglia and or nigra
Rigidity
Neuromuscular abnormality
Abnormal central motor function
Anxiety
Cerebellar atrophy
NMS parkinsonism
Strabismus
Cognitive impairment
Nystagmus
Cerebellar signs
Developmental regression
Optic atrophy
Mri brain other abnormalities
Psychiatric disorders
Hyperreflexia
Show more (+14)
n.a.