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