aicardi-goutières syndrome

Corpus Callosum Agenesis: Causes, Symptoms & Treatment

Corpus callosum agenesis is a hereditary disorder and inhibitory malformation with partial or total malposition of the cerebral peduncle. Affected individuals often exhibit behavioral abnormalities and may suffer from symptoms such as visual and hearing loss. Agenesis is treated symptomatically because no causal therapy exists. What is corpus callosum agenesia? The corpus callosum is a … Corpus Callosum Agenesis: Causes, Symptoms & Treatment

Aicardi-Goutières Syndrome: Causes, Symptoms & Treatment

Aicardi-Goutières syndrome is an enormously rare, autosomal recessive genetic mutation that causes a genetically heterogeneous developmental disorder in the brains of infants around three months of age and is associated with spasticity and epilepsy in addition to severe motor impairments. A maximum life expectancy of ten years is considered a guideline for severe phenotypes, although … Aicardi-Goutières Syndrome: Causes, Symptoms & Treatment

Nucleases: Function & Diseases

Nucleases are enzymes whose function is to degrade nucleic acids such as ribonucleic acid or deoxyribonucleic acid. This is referred to as complete or partial digestion of the substrate. What are nucleases? Nucleases are generally responsible for the degradation of nucleic acids. In this process, the nucleic acid can be degraded from the ends of … Nucleases: Function & Diseases