MRI appearances of metachromatic leukodystrophy
β Scribed by E. N. Faerber, J. Melvin, Eleanor M. Smergel
- Book ID
- 113025209
- Publisher
- Springer-Verlag
- Year
- 1999
- Tongue
- English
- Weight
- 185 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0301-0449
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease. It can be caused by mutations in two different genes, the arylsulfatase A and the prosaposin gene. These genes encode two proteins that are needed for the proper degradation of cerebroside sulfate, a glycolip
In a family with juvenile metachromatic leukodystrophy (sulfatide lipidosis) 2 patients showed residual arylsulfatase A activities of 5--6O/o . The patients' healthy father was characterized biochemicMly by a 39% normal activity of leukoeyte plus plasma arylsulfatase A. The father was further charac