Article
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Human mutation - 1 Jan 2016
Cesani Martina, Lorioli Laura, Grossi Serena, Amico Giulia, Fumagalli Francesca, Spiga Ivana, Filocamo Mirella, Biffi Alessandra
Abstract excerpt
Metachromatic leukodystrophy is a neurodegenerative disorder characterized by progressive demyelination. The disease is caused by variants in the ARSA gene, which codes for the lysosomal enzyme arylsulfatase A, or, more rarely, in the PSAP gene, which codes for the activator protein saposin B. In this Mutation Update, an extensive review of all the ARSA- and PSAP-causative variants published in the literature to...
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