Darling, 2019: Overview of all reported DYT/PARK-PLA2G6 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.
|
Hypotonia
Bulbar dysfunction Parkinsonism Hypointensity on basal ganglia and or nigra Cerebellar atrophy Abnormal eye movement Developmental regression Dystonia, limb Bradykinesia Abnormal central motor function Rigidity Mri brain other abnormalities Resting tremor Cognitive impairment Muscular hypotonia Pyramidal sign Spasticity Cerebellar signs Seizures Tremor (any or unspecified) Dystonia, axial Dystonia (any or unspecified) Show more (+19) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
MAR
|
n.a.
|
n.a.
|
No
|
Muscular hypotonia
Hypotonia Seizures Neuromuscular abnormality Motor delay Delayed gross motor development Cerebellar atrophy Pyramidal sign Abnormal central motor function Mri brain other abnormalities Bulbar dysfunction Cognitive impairment Developmental regression Nystagmus Spasticity Global developmental delay Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
PRT
|
n.a.
|
n.a.
|
No
|
Nystagmus
Global developmental delay Muscular hypotonia Mri brain other abnormalities Cerebellar signs Strabismus Spasticity Pyramidal sign Cerebellar atrophy Seizures Hypotonia Cognitive impairment Delayed gross motor development Optic atrophy Motor delay Developmental regression Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Global developmental delay
Nystagmus Cognitive impairment Cerebellar atrophy Strabismus Developmental regression Motor delay Muscular hypotonia Mri brain other abnormalities Optic atrophy Abnormal central motor function Delayed gross motor development Bulbar dysfunction Hypotonia Hypointensity on basal ganglia and or nigra Spasticity Pyramidal sign Neuromuscular abnormality Show more (+15) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
MAR
|
n.a.
|
n.a.
|
No
|
Mri brain other abnormalities
Dystonia, generalized Motor delay Optic atrophy Developmental regression Cerebellar atrophy Global developmental delay Pyramidal sign Spasticity Microcephaly Neuromuscular abnormality Delayed gross motor development Cognitive impairment Hypointensity on basal ganglia and or nigra Muscular hypotonia Hypotonia Seizures Abnormal central motor function Dystonia (any or unspecified) Show more (+16) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Abnormal central motor function
Spasticity Motor delay Cerebellar signs Muscular hypotonia Cognitive impairment Dystonia (any or unspecified) Mri brain other abnormalities Dystonia, oromandibular Developmental regression Global developmental delay Neuromuscular abnormality Strabismus Pyramidal sign Delayed gross motor development Cerebellar atrophy Hypotonia Show more (+14) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Dystonia (any or unspecified)
Muscular hypotonia Pyramidal sign Developmental regression Seizures Abnormal central motor function Optic atrophy Delayed gross motor development Mri brain other abnormalities Bulbar dysfunction Motor delay Hypotonia Global developmental delay Cerebellar atrophy Strabismus Cognitive impairment Neuromuscular abnormality Dystonia, limb Spasticity Show more (+16) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Delayed gross motor development
Motor delay Hypotonia Cerebellar atrophy Spasticity Developmental regression Cognitive impairment Pyramidal sign Muscular hypotonia Hypointensity on basal ganglia and or nigra Show more (+7) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
No
|
Cerebellar atrophy
Pyramidal sign Dystonia, oromandibular Dystonia (any or unspecified) Global developmental delay Nystagmus Neuromuscular abnormality Dystonia, limb Cognitive impairment Hypotonia Muscular hypotonia Mri brain other abnormalities Optic atrophy Abnormal central motor function Motor delay Developmental regression Bulbar dysfunction Delayed gross motor development Spasticity Show more (+16) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
n.a.
|
Delayed gross motor development
Nystagmus Hypointensity on basal ganglia and or nigra Muscular hypotonia Cognitive impairment Pyramidal sign Spasticity Motor delay Bulbar dysfunction Hypotonia Developmental regression Abnormal central motor function Cerebellar atrophy Show more (+10) |
n.a.
|