Hereditary ceroid lipofuscinosis

Neuronal Ceroid Lipofuscinoses (NCL, also known as Batten disease) is a broad term used to refer to a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumlation of lipopigments, such as lipofuscin, in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the technical word lipo, which is short for "lipid" or fat, and from the term pigment, used because they take on a greenish-yellow color when viewed under an ultraviolet light microscope. The lipopigments build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues. more...

History of Neuronal Ceroid Lipofuscinoses

The first probable instances of this condition were reported in 1826 in a Norwegian medical journal by Dr. Christian Stengel, who described 4 affected siblings in an small mining community in Norway. Although no pathological studies were performed on these children the clinical descriptions are so succinct that the diagnosis of the Spielmeyer-Sjogren (juvenile) type is fully justified.

More fundamental observations were reported by F. E. Batten in 1903, and by Vogt in 1905, who performed extensive clinicopathological studies on several families. Retrospectively, these papers disclose that the authors grouped together different types of the syndrome. Furthermore Batten, at least for some time, insisted that the condition that he described was distinctly different from Tay-Sachs Disease, the prototype of a neuronal lysosomal disorder now identified as GM2-Gangliosidosis type A. Around the same time, Spielmeyer reported detailed studies on three siblings, suffering from the Spielmeyer-Sjogren (juvenile) type, which led him to the very firm statement that this malady is not related to Tay-Sachs Disease. Subsequently, however, the pathomorphological studies of Schaffer made these authors change their minds to the extent that they reclassified their respective observations as variants of Tay-Sachs Disease, which caused confusion lasting about 50 years..

In 1913-14, M. Bielschowsky delineated the Late Infantile form of NCL. However, all forms were still thought to belong in the group of "familial amaurotic idiocies", of which, Tay-Sachs was the prototype.

In 1931, the Swedish psychiatrist and geneticist, Torben Sjogren, presented 115 cases with extensive clinical and genetic documentation and came to the conclusion that the disease which we now call the Spielmeyer-Sjogren (juvenile) type is genetically separate from Tay Sachs.

Departing from the careful morophological observations of Spielmeyer, Hurst, and Sjovall and Ericsson, Zeman and Alpert made a determined effort to document the previously suggested pigmentary nature of the neuronal deposits in certain types of storage disorders. Simultaneously, Terry and Korey and Svennerholm demonstrated a specific ultrastructure and biochemestry for Tay Sachs Disease, and these developments led to the distinct identification and also separation of the NCLs from Tay Sachs Disease by Zeman and Donahue. At that time, it was proposed that the Late Infantile (Jansky-Bielschowsky), the Juvenile (Spielmeyer-Vogt), and the adult form (Kufs) were quite different from Tay-Sachs Disease with respect to chemical pathology and ultrastructure and also different from other forms of sphingolipidoses.

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