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