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