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