Article
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.
Molecular genetics and metabolism - 1 Nov 2022
Santhanakumaran Vidiyaah, Groeschel Samuel, Harzer Klaus, Kehrer Christiane, Elgün Saskia, Beck-Wödl Stefanie, Hengel Holger, Schöls Ludger, Haack Tobias B, Krägeloh-Mann Ingeborg, Laugwitz Lucia
Abstract excerpt
OBJECTIVES: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Subsequent accumulation of sulfatides leads to demyelination and neurodegeneration in the central and peripheral nervous system. To date MLD is classified based on the age at onset, however, especially for late onset forms this classification provides only limited...
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