Clinical aspects of globoid cell and metachromatic leukodystrophies.
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.
D001706:Biopsy; D001921:Brain / Q000473:pathology; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000378:metabolism; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000453:epidemiology / Q000473:pathology; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D008297:Male; D009431:Neural Conduction; D010525:Peripheral Nerves / Q000473:pathology; D013433:Sulfoglycosphingolipids / Q000378:metabolism
D002556:Cerebrospinal Fluid Proteins; D013433:Sulfoglycosphingolipids