Darling, 2019: 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 |
|---|---|---|---|---|---|---|---|---|---|
No
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Abnormal central motor function
Hypotonia Dystonia, limb Developmental regression Mri brain other abnormalities Parkinsonism Abnormal eye movement Cognitive impairment Cerebellar signs Resting tremor Hypointensity on basal ganglia and or nigra Tremor (any or unspecified) Bulbar dysfunction Cerebellar atrophy Muscular hypotonia Spasticity Seizures Dystonia (any or unspecified) Rigidity Pyramidal sign Bradykinesia Dystonia, axial Show more (+19) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
MAR
|
n.a.
|
n.a.
|
No
|
Motor delay
Cerebellar atrophy Muscular hypotonia Spasticity Global developmental delay Hypotonia Nystagmus Delayed gross motor development Developmental regression Neuromuscular abnormality Pyramidal sign Mri brain other abnormalities Bulbar dysfunction Abnormal central motor function Seizures Cognitive impairment Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
PRT
|
n.a.
|
n.a.
|
No
|
Cerebellar signs
Hypotonia Spasticity Cognitive impairment Optic atrophy Seizures Delayed gross motor development Strabismus Mri brain other abnormalities Global developmental delay Muscular hypotonia Motor delay Pyramidal sign Cerebellar atrophy Nystagmus Developmental regression Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Hypointensity on basal ganglia and or nigra
Muscular hypotonia Abnormal central motor function Nystagmus Strabismus Spasticity Neuromuscular abnormality Hypotonia Optic atrophy Pyramidal sign Bulbar dysfunction Global developmental delay Delayed gross motor development Mri brain other abnormalities Developmental regression Cognitive impairment Cerebellar atrophy Motor delay Show more (+15) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
MAR
|
n.a.
|
n.a.
|
No
|
Pyramidal sign
Mri brain other abnormalities Cognitive impairment Optic atrophy Dystonia (any or unspecified) Spasticity Microcephaly Hypointensity on basal ganglia and or nigra Cerebellar atrophy Hypotonia Developmental regression Global developmental delay Delayed gross motor development Muscular hypotonia Dystonia, generalized Neuromuscular abnormality Motor delay Seizures Abnormal central motor function Show more (+16) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Global developmental delay
Spasticity Mri brain other abnormalities Pyramidal sign Cerebellar signs Strabismus Developmental regression Hypotonia Cognitive impairment Cerebellar atrophy Muscular hypotonia Abnormal central motor function Delayed gross motor development Neuromuscular abnormality Dystonia (any or unspecified) Dystonia, oromandibular Motor delay Show more (+14) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Optic atrophy
Developmental regression Dystonia (any or unspecified) Muscular hypotonia Abnormal central motor function Neuromuscular abnormality Motor delay Spasticity Delayed gross motor development Cognitive impairment Mri brain other abnormalities Seizures Bulbar dysfunction Hypotonia Global developmental delay Pyramidal sign Cerebellar atrophy Strabismus Dystonia, limb Show more (+16) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Delayed gross motor development
Developmental regression Motor delay Spasticity Cerebellar atrophy Pyramidal sign Muscular hypotonia Cognitive impairment Hypointensity on basal ganglia and or nigra Hypotonia Show more (+7) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Hypotonia
Delayed gross motor development Abnormal central motor function Spasticity Dystonia (any or unspecified) Neuromuscular abnormality Bulbar dysfunction Cerebellar atrophy Motor delay Pyramidal sign Developmental regression Dystonia, oromandibular Optic atrophy Muscular hypotonia Nystagmus Global developmental delay Mri brain other abnormalities Cognitive impairment Dystonia, limb Show more (+16) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Abnormal central motor function
Nystagmus Pyramidal sign Spasticity Developmental regression Cerebellar atrophy Bulbar dysfunction Motor delay Hypointensity on basal ganglia and or nigra Cognitive impairment Muscular hypotonia Delayed gross motor development Hypotonia Show more (+10) |
n.a.
|