Globoid cell leukodystrophy: a family with both late-infantile and adult type.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 1891085.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We present a patient with adult-onset globoid cell leukodystrophy (GBL) who had almost complete deficiency of galactosylceramide beta-galactosidase. A brother of the index patient deteriorated neurologically and died at the age of 4, probably from the late-infantile form of the disease. In this family, two clinical types of GBL are probably different expressions of an identical genotype.
Medical subject headings
- Galactosylceramidase
- Leukodystrophy, Globoid Cell