The neuronal ceroid lipofuscinoses

Published on October 1, 2007 Updated on July 27, 2016   29 min

Other Talks in the Category: Biochemistry

Hello, my name is Sandra Hofmann, and I'm a professor in the Department of Internal Medicine at the University of Texas Southwestern Medical Center in Dallas. The title of my presentation is The Neuronal Ceroid Lipofuscinoses.
The neuronal ceroid lipofuscionses, or NCLs, as I will refer to them throughout the rest of my talk, are a group of inherited metabolic disorders of children characterized by progressive blindness, progressive mental retardation and motor deficits, seizures, and autosomal recessive inheritance, such that multiple siblings may be affected. Auto fluorescent storage material accumulates in the brain and other tissues. The disorder may be diagnosed when skin, lymphocytes, or brain tissue from an affected individual are sectioned from microscopy and the unstained sections are placed under fluorescent light and examined under a microscope, as shown in the next slide.
The upper panels of this slide show different regions of NCL brain tissue, such as cortex, hippocampus, pons, and cerebellum, showing the bright green autofluorescence, which is not present in normal tissue in the lower panels.