Article
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
Human mutation - 1 Nov 2008
Grossi Serena, Regis Stefano, Rosano Camillo, Corsolini Fabio, Uziel Graziella, Sessa Maria, Di Rocco Maja, Parenti Giancarlo, Deodato Federica, Leuzzi Vincenzo, Biancheri Roberta, Filocamo Mirella
Abstract excerpt
Metachromatic leukodystrophy (MLD), the demyelinating disorder resulting from impaired sulfatide catabolism, is caused by allelic mutations of the Arylsulfatase A (ARSA) locus except for extremely rare cases of Saposin-B (Sap-B) deficiency. We characterized twenty-one unrelated Italian patients among which seventeen were due to ARSA activity deficiency and 4 others resulted from Saposin-B defect. Overall, we...
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