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