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