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On the Relationship of Metachromatic Leucodystrophy and Amaurotic Idiocy
Creator:Mossakowski, Mirosław Jan (1929–2001) ; Mathieson, G. ; Cumings, JN.
Publisher: Place of publishing: Date issued/created: Type of object: Subject and Keywords:amaurotic family idiocy ; metachromatic leucodystrophy
Abstract:The existence of a close and pathogenetically significant relationship between amaurotic family idiocy and metachromatic leucodystrophy has frequently been suggested on both morbid anatomical and biochemical grounds. Two morphological observations support this hypothesis: first, the occurrence of lipid storage within the cytoplasm of neurones of certain fairly constant nuclear groups in cases of metachromatic leucodystrophy (Wicke, 1938; Norman, 1947; Brain and Greenfield, 1950; Greenfield, 1950; Leslie, 1952; Peiffer and Hirsch, 1955; Jervis, 1958, 1960; and others) and secondly the presence in some cases of amaurotic family idiocy of large areas deficient in myelin but containing, in addition to neutral fats, substances called prelipids (Ostertag, 1925; Berard-Badier, et al., 1958). From a biochemical viewpoint, an increase in the hexosamine and neuraminic acid content of the brain has been found in both conditions; in metachromatic leucodystrophy this increase is in the white matter (Edgar, 1955a and b) while in amaurotic idiocy it has been observed in samples of grey matter (Cumings, 1953).The object of this paper is to describe the pathological findings in 3 siblings who exemplify this association in remarkable degree and to discuss the results of histochemical and biochemical studies.The 3 sibs who form the subject of the present report come from a sib- ship of 5 in a French-Canadian family (fig. 1). The parents are young, healthy and not consanguineous. There was no neurological disease in the parents’ or grandparents’ generations. The two youngest siblings in this family, twins born in 1957, are developing normally, and examination at the age of 3 years did not reveal any abnormality suggestive of the disease which involved the older siblings.
Relation: Volume: Issue: Start page: End page: Resource type: Detailed Resource Type: Format: Language: Rights:Licencja Creative Commons Uznanie autorstwa 4.0
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Digitizing institution:Instytut Medycyny Doświadczalnej i Klinicznej im. M. Mossakowskiego Polskiej Akademii Nauk
Original in:Biblioteka Instytutu Medycyny Doświadczalnej i Klinicznej im. M. Mossakowskiego PAN
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