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.
|
Dystonia, limb
Bradykinesia Pyramidal sign Cerebellar atrophy Dystonia, axial Abnormal eye movement Hypotonia Rigidity Dystonia (any or unspecified) Tremor (any or unspecified) Cerebellar signs Developmental regression Spasticity Mri brain other abnormalities Muscular hypotonia Cognitive impairment Parkinsonism Seizures Hypointensity on basal ganglia and or nigra Resting tremor Abnormal central motor function Bulbar dysfunction Show more (+19) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
MAR
|
n.a.
|
n.a.
|
No
|
Cognitive impairment
Neuromuscular abnormality Bulbar dysfunction Muscular hypotonia Motor delay Nystagmus Spasticity Developmental regression Delayed gross motor development Hypotonia Pyramidal sign Global developmental delay Abnormal central motor function Cerebellar atrophy Mri brain other abnormalities Seizures Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
PRT
|
n.a.
|
n.a.
|
No
|
Global developmental delay
Pyramidal sign Spasticity Strabismus Optic atrophy Motor delay Cognitive impairment Cerebellar signs Developmental regression Nystagmus Hypotonia Cerebellar atrophy Mri brain other abnormalities Delayed gross motor development Muscular hypotonia Seizures Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Spasticity
Pyramidal sign Nystagmus Abnormal central motor function Motor delay Delayed gross motor development Cognitive impairment Hypointensity on basal ganglia and or nigra Optic atrophy Strabismus Hypotonia Neuromuscular abnormality Global developmental delay Mri brain other abnormalities Muscular hypotonia Bulbar dysfunction Developmental regression Cerebellar atrophy Show more (+15) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
MAR
|
n.a.
|
n.a.
|
No
|
Mri brain other abnormalities
Neuromuscular abnormality Cognitive impairment Optic atrophy Seizures Muscular hypotonia Developmental regression Spasticity Dystonia (any or unspecified) Hypotonia Motor delay Microcephaly Abnormal central motor function Cerebellar atrophy Global developmental delay Dystonia, generalized Delayed gross motor development Pyramidal sign Hypointensity on basal ganglia and or nigra Show more (+16) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Pyramidal sign
Dystonia, oromandibular Global developmental delay Spasticity Strabismus Muscular hypotonia Neuromuscular abnormality Mri brain other abnormalities Abnormal central motor function Cerebellar signs Cognitive impairment Developmental regression Delayed gross motor development Dystonia (any or unspecified) Motor delay Cerebellar atrophy Hypotonia Show more (+14) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Mri brain other abnormalities
Muscular hypotonia Strabismus Dystonia, limb Cerebellar atrophy Cognitive impairment Delayed gross motor development Bulbar dysfunction Abnormal central motor function Hypotonia Motor delay Seizures Optic atrophy Neuromuscular abnormality Dystonia (any or unspecified) Pyramidal sign Developmental regression Global developmental delay Spasticity Show more (+16) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Pyramidal sign
Cerebellar atrophy Developmental regression Cognitive impairment Hypotonia Hypointensity on basal ganglia and or nigra Delayed gross motor development Motor delay Muscular hypotonia Spasticity Show more (+7) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Abnormal central motor function
Global developmental delay Spasticity Cerebellar atrophy Delayed gross motor development Neuromuscular abnormality Developmental regression Muscular hypotonia Cognitive impairment Dystonia (any or unspecified) Dystonia, oromandibular Hypotonia Motor delay Optic atrophy Mri brain other abnormalities Bulbar dysfunction Nystagmus Pyramidal sign Dystonia, limb Show more (+16) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Spasticity
Abnormal central motor function Bulbar dysfunction Muscular hypotonia Hypotonia Nystagmus Pyramidal sign Delayed gross motor development Cognitive impairment Motor delay Cerebellar atrophy Developmental regression Hypointensity on basal ganglia and or nigra Show more (+10) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Dystonia, oromandibular
Developmental regression Delayed gross motor development Hypotonia Cerebellar atrophy Dystonia (any or unspecified) Cognitive impairment Global developmental delay Cerebellar signs Pyramidal sign Bulbar dysfunction Abnormal central motor function Neuromuscular abnormality Nystagmus Muscular hypotonia Motor delay Mri brain other abnormalities Spasticity Show more (+15) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
DOM
|
n.a.
|
n.a.
|
No
|
Parkinsonism
Pyramidal sign Strabismus Bulbar dysfunction Cerebellar atrophy Spasticity Dystonia (any or unspecified) Cognitive impairment Muscular hypotonia Hypointensity on basal ganglia and or nigra Developmental regression Delayed gross motor development Abnormal central motor function Seizures Dystonia, limb Hypotonia Motor delay Optic atrophy Bradykinesia Rigidity Show more (+17) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Abnormal eye movement
Abnormal central motor function Mri brain other abnormalities Hypointensity on basal ganglia and or nigra Nystagmus Delayed gross motor development Spasticity Cerebellar atrophy Motor delay Cognitive impairment Neuromuscular abnormality Optic atrophy Pyramidal sign Strabismus Parkinsonism Developmental regression Cerebellar signs Bradykinesia Show more (+15) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
MAR
|
n.a.
|
n.a.
|
No
|
Strabismus
Cognitive impairment Spasticity Mri brain other abnormalities Delayed gross motor development Pyramidal sign Cerebellar atrophy Muscular hypotonia Motor delay Hypotonia Global developmental delay Developmental regression Show more (+9) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
Delayed speech and language development Global developmental delay Muscular hypotonia Seizures Abnormal central motor function Cognitive impairment Bulbar dysfunction Pyramidal sign Spasticity Hypotonia Developmental regression Show more (+9) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Developmental regression
Global developmental delay Motor delay Optic atrophy Muscular hypotonia Hypotonia Bulbar dysfunction Spasticity Seizures Abnormal central motor function Dystonia (any or unspecified) Hypointensity on basal ganglia and or nigra Cognitive impairment Neuromuscular abnormality Cerebellar atrophy Pyramidal sign Nystagmus Delayed gross motor development Delayed speech and language development Mri brain other abnormalities Abnormal eye movement Show more (+18) |
n.a.
|