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