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