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