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