Darling, 2019: Overview of all reported DYT/PARK-PLA2G6 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Delayed gross motor development
Spasticity Neuromuscular abnormality Cerebellar signs Developmental regression Global developmental delay Bulbar dysfunction Motor delay Abnormal central motor function Nystagmus Hypotonia Dystonia, oromandibular Dystonia (any or unspecified) Cerebellar atrophy Muscular hypotonia Mri brain other abnormalities Pyramidal sign Cognitive impairment Show more (+15) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
DOM
|
n.a.
|
n.a.
|
No
|
Developmental regression
Delayed gross motor development Dystonia, limb Dystonia (any or unspecified) Abnormal central motor function Cognitive impairment Bradykinesia Pyramidal sign Muscular hypotonia Hypointensity on basal ganglia and or nigra Bulbar dysfunction Parkinsonism Cerebellar atrophy Hypotonia Optic atrophy Spasticity Strabismus Motor delay Seizures Rigidity Show more (+17) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Motor delay
Mri brain other abnormalities Developmental regression Cognitive impairment Hypointensity on basal ganglia and or nigra Delayed gross motor development Strabismus Parkinsonism Spasticity Cerebellar atrophy Pyramidal sign Neuromuscular abnormality Abnormal eye movement Bradykinesia Nystagmus Abnormal central motor function Cerebellar signs Optic atrophy Show more (+15) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
MAR
|
n.a.
|
n.a.
|
No
|
Strabismus
Motor delay Cerebellar atrophy Spasticity Pyramidal sign Cognitive impairment Mri brain other abnormalities Hypotonia Delayed gross motor development Muscular hypotonia Developmental regression Global developmental delay Show more (+9) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Delayed speech and language development
Dystonia (any or unspecified) Global developmental delay Spasticity Pyramidal sign Abnormal central motor function Cognitive impairment Seizures Developmental regression Muscular hypotonia Hypotonia Bulbar dysfunction Show more (+9) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Delayed speech and language development
Seizures Abnormal central motor function Hypointensity on basal ganglia and or nigra Abnormal eye movement Developmental regression Cerebellar atrophy Muscular hypotonia Delayed gross motor development Dystonia (any or unspecified) Cognitive impairment Nystagmus Hypotonia Motor delay Mri brain other abnormalities Pyramidal sign Optic atrophy Bulbar dysfunction Neuromuscular abnormality Global developmental delay Spasticity Show more (+18) |
n.a.
|