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