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
|
Developmental regression
Neuromuscular abnormality Nystagmus Hyperreflexia Strabismus Bulbar dysfunction Abnormal central motor function NMS parkinsonism Cognitive impairment Muscular hypotonia Hypotonia Autonomic sign/sympt. Anarthria Optic atrophy Cerebellar atrophy Mri brain other abnormalities Pyramidal sign Spasticity Show more (+15) |
Developmental regression
|
|
Yes
|
♂
|
C
|
n.a.
|
2
|
3
|
n.a.
|
Cerebellar atrophy
Hyperreflexia Strabismus Hypotonia Neuromuscular abnormality Abnormal central motor function Pyramidal sign Optic atrophy Bulbar dysfunction Anarthria Developmental regression NMS parkinsonism Mri brain other abnormalities Muscular hypotonia Autonomic sign/sympt. Sleep disorder Show more (+13) |
Developmental regression
|
|
Yes
|
♀
|
C
|
n.a.
|
1
|
6
|
No
|
Anarthria
Bulbar dysfunction Spasticity Pyramidal sign Abnormal central motor function Neuromuscular abnormality Autonomic sign/sympt. Cerebellar atrophy Developmental regression Muscular hypotonia Hypotonia NMS parkinsonism Hyperreflexia Mri brain other abnormalities Hypointensity on basal ganglia and or nigra Show more (+12) |
Bulbar dysfunction
Developmental regression |
|
Yes
|
♀
|
C
|
n.a.
|
3
|
17
|
No
|
Gait disturbance
NMS parkinsonism Dysarthria Spasticity Dystonia, leg Dystonia (any or unspecified) Cerebellar atrophy Abnormal eye movement Mri brain other abnormalities Hypointensity on basal ganglia and or nigra Cognitive impairment Cerebellar signs Pyramidal sign Abnormal central motor function Dystonia, limb Hyperreflexia Neuromuscular abnormality Dystonia, arm Show more (+15) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
PAK
|
2
|
7
|
No
|
Autonomic sign/sympt.
Cerebellar atrophy NMS parkinsonism Dystonia, focal Muscular hypotonia Nystagmus Abnormal central motor function Dystonia, jaw Developmental regression Anarthria Dystonia (any or unspecified) Hypotonia Mri brain other abnormalities Spasticity Neuromuscular abnormality Bulbar dysfunction Pyramidal sign Optic atrophy Global developmental delay Show more (+16) |
Developmental regression
Bulbar dysfunction |