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Clinical aspects of globoid cell and metachromatic leukodystrophies.
Birth Defects Orig Artic Ser. 1971 Feb; 7(1):103-12.BD

Abstract

This paper describes the clinical, diagnostic, genetic and incidence aspects of globoid cell leukodystrophy and metachromatic leukodystrophy, the two least rare and most distinctive types among the leukodystrophies. It is based on experiences with 32 Swedish cases of globoid cell leukodystrophy (1953-1967) and 16 Swedish cases of metachromatic leukodystrophy (1956-1969). In both disorders it is now possible to make a correct diagnosis during life through various laboratory and biopsy procedures. An autosomal recessive inheritance is present in both of the disorders. The incidence of Krabbe's disease was found to be about 2:100,000 newborns in Sweden. The corresponding figure for metachromatic leukodystrophy is unknown at this time but is probably of about the same magnitude. This is the case in Northern Sweden.

Authors

Hagberg B
No affiliation info available

MeSH

BiopsyBrainCerebrospinal Fluid ProteinsChildChild, PreschoolElectroencephalographyFemaleHumansInfantKidneyLeukodystrophy, Globoid CellLeukodystrophy, MetachromaticLiverMaleNeural ConductionPeripheral NervesSulfoglycosphingolipids

Pub Type(s)

Journal Article

Language

eng

PubMed ID

5173355

Citation

Hagberg, B. "Clinical Aspects of Globoid Cell and Metachromatic Leukodystrophies." Birth Defects Original Article Series, vol. 7, no. 1, 1971, pp. 103-12.
Hagberg B. Clinical aspects of globoid cell and metachromatic leukodystrophies. Birth Defects Orig Artic Ser. 1971;7(1):103-12.
Hagberg, B. (1971). Clinical aspects of globoid cell and metachromatic leukodystrophies. Birth Defects Original Article Series, 7(1), 103-12.
Hagberg B. Clinical Aspects of Globoid Cell and Metachromatic Leukodystrophies. Birth Defects Orig Artic Ser. 1971;7(1):103-12. PubMed PMID: 5173355.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical aspects of globoid cell and metachromatic leukodystrophies. A1 - Hagberg,B, PY - 1971/2/1/pubmed PY - 1971/2/1/medline PY - 1971/2/1/entrez SP - 103 EP - 12 JF - Birth defects original article series JO - Birth Defects Orig Artic Ser VL - 7 IS - 1 N2 - This paper describes the clinical, diagnostic, genetic and incidence aspects of globoid cell leukodystrophy and metachromatic leukodystrophy, the two least rare and most distinctive types among the leukodystrophies. It is based on experiences with 32 Swedish cases of globoid cell leukodystrophy (1953-1967) and 16 Swedish cases of metachromatic leukodystrophy (1956-1969). In both disorders it is now possible to make a correct diagnosis during life through various laboratory and biopsy procedures. An autosomal recessive inheritance is present in both of the disorders. The incidence of Krabbe's disease was found to be about 2:100,000 newborns in Sweden. The corresponding figure for metachromatic leukodystrophy is unknown at this time but is probably of about the same magnitude. This is the case in Northern Sweden. SN - 0547-6844 UR - https://www.unboundmedicine.com/medline/citation/5173355/Clinical_aspects_of_globoid_cell_and_metachromatic_leukodystrophies_ DB - PRIME DP - Unbound Medicine ER -