Illingworth, 2014: 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
Yes
C
n.a.
1
8
No
Bulbar dysfunction
Autonomic sign/sympt.
Hypotonia
Nystagmus
Neuromuscular abnormality
Developmental regression
Spasticity
Cerebellar atrophy
Pyramidal sign
Mri brain other abnormalities
Muscular hypotonia
NMS parkinsonism
Strabismus
Abnormal central motor function
Optic atrophy
Anarthria
Hyperreflexia
Cognitive impairment
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Developmental regression
Yes
C
n.a.
2
3
n.a.
Bulbar dysfunction
Hyperreflexia
Cerebellar atrophy
Developmental regression
Pyramidal sign
Muscular hypotonia
NMS parkinsonism
Hypotonia
Neuromuscular abnormality
Anarthria
Abnormal central motor function
Optic atrophy
Strabismus
Autonomic sign/sympt.
Mri brain other abnormalities
Sleep disorder
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Developmental regression
Yes
C
n.a.
1
6
No
Neuromuscular abnormality
Spasticity
Pyramidal sign
Abnormal central motor function
Muscular hypotonia
Mri brain other abnormalities
Bulbar dysfunction
Hypotonia
Anarthria
NMS parkinsonism
Hyperreflexia
Developmental regression
Autonomic sign/sympt.
Hypointensity on basal ganglia and or nigra
Cerebellar atrophy
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Bulbar dysfunction
Developmental regression
Yes
C
n.a.
3
17
No
Cerebellar atrophy
Dysarthria
Dystonia, arm
Hyperreflexia
Pyramidal sign
Abnormal eye movement
Cognitive impairment
Dystonia, leg
NMS parkinsonism
Spasticity
Cerebellar signs
Gait disturbance
Hypointensity on basal ganglia and or nigra
Dystonia, limb
Mri brain other abnormalities
Neuromuscular abnormality
Abnormal central motor function
Dystonia (any or unspecified)
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n.a.
Yes
n.a.
PAK
2
7
No
Pyramidal sign
NMS parkinsonism
Cerebellar atrophy
Abnormal central motor function
Dystonia (any or unspecified)
Dystonia, focal
Muscular hypotonia
Global developmental delay
Autonomic sign/sympt.
Optic atrophy
Spasticity
Neuromuscular abnormality
Hypotonia
Dystonia, jaw
Anarthria
Mri brain other abnormalities
Bulbar dysfunction
Nystagmus
Developmental regression
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Bulbar dysfunction
Developmental regression