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