From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis
Kasper BS, Thomas C, Albers A, Kasper EM, Sandhoff K (2023)
Publication Type: Journal article
Publication year: 2023
Journal
Book Volume: 4
Article Number: 12
DOI: 10.17879/freeneuropathology-2023-4845
Abstract
On February 23rd 1936, a boy-child (“Kn”) died in an asylum near Munich after years of severe congenital disease, which had profoundly impaired his development leading to inability to walk, talk and see as well as to severe epilepsy. While a diagnosis of “Little’s disease” was made during life, his postmortem brain investigation at Munich neuropathology (“Deutsche Forschungsanstalt für Psychiatrie”) revealed the diagnosis of “amaurotic idiocy” (AI). AI, as exemplified by Tay-Sachs-Disease (TSD), back then was not yet understood as a specific inborn error of metabolism encompassing several disease entities. Many neuropathological studies were performed on AI, but the underlying processes could only be revealed by new scientific techniques such as biochemical analysis of nervous tissue, deciphering AI as nervous system lipid storage diseases, e.g. GM2-gangliosidosis. In 1963, Sandhoff & Jatzkewitz published an article on a “biochemically special form of AI” reporting striking differences when comparing their biochemical observations of hallmark features of TSD to tissue composition in a single case: the boy Kn. This was the first description of “GM1-Gangliosidosis”, later understood as resulting from genetically determined deficiency in beta-galactosidase. Here we present illustrative materials from this historic patient, including selected diagnostic slides from the case “Kn” in virtual microscopy, original records and other illustrative material available. Finally, we present results from genetic analysis performed on archived tissue proving beta-galactosidase-gene mutation, verifying the 1963 interpretation as correct. This synopsis shall give a first-hand impression of this milestone finding in neuropathology.
Authors with CRIS profile
Involved external institutions
Universitätsklinikum Münster
Germany (DE)
Rheinische Friedrich-Wilhelms-Universität Bonn
Germany (DE)
McMaster University
Canada (CA)
Germany (DE)
Rheinische Friedrich-Wilhelms-Universität Bonn
Germany (DE)
McMaster University
Canada (CA)
How to cite
APA:
Kasper, B.S., Thomas, C., Albers, A., Kasper, E.M., & Sandhoff, K. (2023). From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis. Free Neuropathology, 4. https://doi.org/10.17879/freeneuropathology-2023-4845
MLA:
Kasper, Burkhard S., et al. "From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis." Free Neuropathology 4 (2023).
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