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