Tag: leukodystrophy

  • Sudanophilic Leukodystrophy

    Sudanophilic Leukodystrophy: Definition and Description of Sudanophilic Leukodystrophy: Sudanophilic Leukodystrophy is a rare genetic disorder that primarily affects the myelin sheath, the protective covering of nerves in the brain and spinal cord. This condition is categorized under leukodystrophies, which are a group of inherited or acquired disorders that disrupt the growth or maintenance of the…

  • Globoid Cell Leukoencephalopathy

    Globoid Cell Leukoencephalopathy Definition and Description of Globoid Cell Leukoencephalopathy Globoid Cell Leukoencephalopathy (GCL) is a rare, inherited neurological disorder characterized by the progressive degeneration of the nervous system. It is a form of leukodystrophy, which affects the white matter of the brain. GCL is primarily caused by the deficiency of the enzyme galactocerebrosidase (GALC),…

  • Canavan Disease

    Canavan Disease Definition and Description of Canavan Disease Canavan Disease is a rare genetic disorder categorized as a type of leukodystrophy, characterized by the progressive degeneration of the brain’s white matter. It occurs due to a deficiency of the enzyme aspartoacylase, which is essential for metabolizing N-acetyl aspartate (NAA), a compound found in myelin and…

  • Alexander Disease

    Alexander Disease Definition and Description of Alexander Disease Alexander Disease is a rare and progressive neurological disorder that primarily affects the myelin sheath, which is the protective covering surrounding nerve fibers in the central nervous system. This disease is characterized by the accumulation of abnormal proteins known as Rosenthal fibers in glial cells, which disrupts…