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