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