Publisher:

St. Martin's Press Inc

Place of publishing:

New York

Type of object:

Journal/Article

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:

Brain

Volume:

84

Issue:

4

Start page:

585

End page:

604

Detailed Resource Type:

Article (offprint)

Format:

pdf

Resource Identifier:

oai:rcin.org.pl:79669

Language:

eng

Rights:

Creative Commons Attribution BY 4.0 license

Terms of use:

Copyright-protected material. [CC BY 4.0] May be used within the scope specified in Creative Commons Attribution BY 4.0 license, full text available at: ; -

Digitizing institution:

Mossakowski Medical Research Institute PAS

Original in:

Library of the Mossakowski Medical Research Institute PAS

Projects co-financed by:

Operational Program Digital Poland, 2014-2020, Measure 2.3: Digital accessibility and usefulness of public sector information; funds from the European Regional Development Fund and national co-financing from the state budget.

Access:

Open