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
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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
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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
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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
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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.
p.Arg645*: hom
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.