From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis.

ABSTRACT: On February 23^rd 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 t

SUBMITTER: Kasper BS 

PROVIDER: S-EPMC10413987 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature