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