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