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