Illingworth, 2014: Overview of all reported DYT/PARK-PLA2G6 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
n.a.
|
1
|
8
|
No
|
Nystagmus
Bulbar dysfunction Abnormal central motor function Cognitive impairment Developmental regression Cerebellar atrophy Anarthria Autonomic sign/sympt. Strabismus Neuromuscular abnormality NMS parkinsonism Mri brain other abnormalities Hyperreflexia Spasticity Hypotonia Pyramidal sign Optic atrophy Muscular hypotonia Show more (+15) |
Developmental regression
|
|
Yes
|
♂
|
C
|
n.a.
|
2
|
3
|
n.a.
|
Abnormal central motor function
Hyperreflexia Neuromuscular abnormality Optic atrophy Sleep disorder Strabismus Muscular hypotonia Hypotonia Anarthria Developmental regression NMS parkinsonism Cerebellar atrophy Pyramidal sign Autonomic sign/sympt. Mri brain other abnormalities Bulbar dysfunction Show more (+13) |
Developmental regression
|
|
Yes
|
♀
|
C
|
n.a.
|
1
|
6
|
No
|
Pyramidal sign
Autonomic sign/sympt. Spasticity Abnormal central motor function Mri brain other abnormalities Cerebellar atrophy Neuromuscular abnormality Anarthria Developmental regression Muscular hypotonia Hypotonia Hypointensity on basal ganglia and or nigra Hyperreflexia Bulbar dysfunction NMS parkinsonism Show more (+12) |
Developmental regression
Bulbar dysfunction |
|
Yes
|
♀
|
C
|
n.a.
|
3
|
17
|
No
|
Dystonia, arm
Mri brain other abnormalities Hypointensity on basal ganglia and or nigra Spasticity Dystonia, leg Gait disturbance Dysarthria Abnormal central motor function Dystonia (any or unspecified) Abnormal eye movement Hyperreflexia Neuromuscular abnormality Pyramidal sign NMS parkinsonism Dystonia, limb Cognitive impairment Cerebellar signs Cerebellar atrophy Show more (+15) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
PAK
|
2
|
7
|
No
|
Developmental regression
Muscular hypotonia Hypotonia Cerebellar atrophy Dystonia, focal Dystonia, jaw Nystagmus Anarthria Mri brain other abnormalities Dystonia (any or unspecified) NMS parkinsonism Neuromuscular abnormality Spasticity Pyramidal sign Global developmental delay Optic atrophy Autonomic sign/sympt. Abnormal central motor function Bulbar dysfunction Show more (+16) |
Developmental regression
Bulbar dysfunction |