Article
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.
Human mutation - 1 Oct 2009
Cesani Martina, Capotondo Alessia, Plati Tiziana, Sergi Lucia Sergi, Fumagalli Francesca, Roncarolo Maria Grazia, Naldini Luigi, Comi Giancarlo, Sessa Maria, Biffi Alessandra
Abstract excerpt
Metachromatic Leukodystrophy (MLD) is a rare inherited lysosomal storage disorder caused by the deficiency of Arylsulfatase A (ARSA). The disease manifests itself with a broad spectrum of clinical variants, all characterized by progressive neurodegeneration in the central and peripheral nervous systems. The correlation between mutations in the ARSA gene, residual enzymatic activity associated with the mutated...
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