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 Show more (+15) |
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 Show more (+13) |
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 Show more (+12) |
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) Show more (+15) |
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 Show more (+16) |
Bulbar dysfunction
Developmental regression |