Antall József szerk.: Orvostörténeti közlemények 87-88. (Budapest, 1979)

TANULMÁNYOK - Czeizel, Endre: A heredodegeneraciós tan történeti értékelése (angol nyelven)

York called his attention to the conspicuous swelling of the neurons and the characteristic intraneuronal deformities inducing it. Sachs then in 1896 summed up the disease that showed familial cluster (i. e. it was hereditary) and went along with idiocy and congenital blindness, in a uniform clinical picture named amaurotic familial idiocy. In 1898 W. Hirsch bestowed a separate communication to the introduction of the swelling of neurons in these cases. It was Károly Schaffer who gave an exact histopathological description of the disease and as a disease-specific criterion discovered lipoid storage. Such importance was attached to it, that Tay-Sachs disease is mentioned also as Tay

—Sachs

—Schaffer disease. Károly Schaffer published his first neurohistological observation on Tay-Sachs disease (further on TSD) in 1901 and 1902, respectively. Later he summed up his results and views derived from the study of TSD cases in 23 German, several English Fig. 2. Károly Schaffer (1864-1939) and many Hungarian communications. He succeeded in setting up a theoretical model of this rare clinical picture that was suitable for drawing general conclusions. His histopathological investigations aimed at two points: "Chronologically the first aim was to define the exact anatomical substratum of the TSD; the further and second aim was to read from the discovered histopathological deformities the causal factors dominating the pathological process, in other words to define the pathogenesis of the affection.'''' He demonstrated the essence of the more subtle histopathological deformities first by Bielschowsky's silver impregnation method at the congress of German neuropsychiatrists in Baden-Baden in 1905. He writes : "this method shows the outlines of the neurons as shapes drawn with Indian ink and so we can display precisely the big globular or bottle-shaped swelling of the neuron dendrites. (Fig. 3) The unproportional size of these local swellings since the dendrite bloats 10—20 times its normal thickness, automatically raises the question: what do they contain ? This question was answered in 1907