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The neuronal ceroid lipofuscinoses

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

A selection of talks on Biochemistry

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0:00
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.
0:17
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.
1:05
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.
1:23
The name, neuronal ceroid lipofuscinoses was coined in 1968 by Zeman and Dyken to distinguish certain patients from those with Tay-Sachs disease, which shares a similar phenotype. This was at a time when the enzymatic basis of Tay-Sachs first became known. The name comes from first, the observation that neurons are strongly affected. The symptoms of the disease are almost entirely related to central nervous system dysfunction, although the autofluorescence can be found throughout the body. The cerebral cortex and hippocampus are most profoundly affected. Ceroid is a term pathologists use to refer to waxy pigments seen in pathologic states. Lipofusion is the normal yellow-brown pigment seen in all tissues during the normal course of aging. It is believed to consist of the indigestible remnants of organelles and cellular debris that accumulates over a lifetime.