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