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