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