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