Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?

Keyphrases

• Neuroimaging Findings 100%
• Molecular Findings 100%
• Prenatal Diagnosis 100%
• Cerebellar Hypoplasia 100%
• At Birth 40%
• Pontine 40%
• Cerebellar Hemisphere 40%
• Hypoplastic 40%
• Pontine nuclei 40%
• Prenatal Imaging 40%
• TSEN54 40%
• Early Onset 20%
• Neurodegeneration 20%
• White Matter Changes 20%
• Cerebellum 20%
• Brainstem 20%
• Brain Imaging 20%
• Neuropathology 20%
• Sequence Analysis 20%
• Cerebellar Abnormalities 20%
• Homozygosity 20%
• Autosomal Recessive 20%
• Pons 20%
• Olivary 20%
• Dyskinesia 20%
• Dysgenesis 20%
• Microcephaly 20%
• Prenatal Ultrasound 20%
• Congenital Disorders 20%
• Fiber Tracts 20%
• Folium 20%
• Common Founder 20%
• Extrapyramidal Symptoms 20%
• Long Fiber 20%
• Dentate 20%
• Feeding Difficulties 20%
• Vermis 20%
• Respiratory Difficulty 20%
• Direct Sequencing 20%
• Founder mutation 20%
• Abnormal Growth 20%
• Pontocerebellar 20%
• Anterior Horn Cell 20%
• Dizygous 20%
• Crossing Fibers 20%
• RNA-guided Endonucleases 20%
• Cerebellar Dysgenesis 20%
• Fetal Onset 20%
• MRI Tractography 20%
• Neurodevelopmental Impairment 20%
• TSEN2 20%
• Cerebral Gliosis 20%

Neuroscience

• Hypoplasia 100%
• Cerebellar Hemisphere 40%
• Pontine Nucleus 40%
• Magnetic Resonance Imaging 20%
• Brain Imaging 20%
• Brainstem 20%
• Tractography 20%
• Cerebellum 20%
• Pons 20%
• Microcephaly 20%
• Transfer RNA 20%
• Congenital Disorder 20%
• Autosomal Recessive Disorder 20%
• Dyskinesia 20%
• Neurodegeneration 20%
• Protein Sequencing 20%
• Gliosis 20%
• Shotgun Sequencing 20%
• Endonuclease 20%