title: Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
abstract: 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 date, accounting for a total of 200 ARSA and 10 PSAP allele types, is presented. The detailed ARSA and PSAP variant lists are freely available on the Leiden Online Variation Database (LOVD) platform at http://www.LOVD.nl/ARSA and http://www.LOVD.nl/PSAP, respectively.
authors.affiliation: San Raffaele Telethon Institute for Gene Therapy, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Cesani
authors.affiliation: San Raffaele Telethon Institute for Gene Therapy, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.|Vita-Salute San Raffaele University, Milan, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Lorioli
authors.affiliation: Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Grossi
authors.affiliation: Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Amico
authors.affiliation: San Raffaele Telethon Institute for Gene Therapy, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.|Neurology Department, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Fumagalli
authors.affiliation: Clinical Molecular Biology Laboratory, San Raffaele Hospital, Milan, Italy.
authors.forename: Ivana
authors.initials: I
authors.lastname: Spiga
authors.affiliation: Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy.
authors.forename: Mirella
authors.initials: M
authors.lastname: Filocamo
authors.affiliation: San Raffaele Telethon Institute for Gene Therapy, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Biffi
mesh_terms: D000483:Alleles; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D030541:Databases, Genetic; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D049231:Saposins / Q000235:genetics*
chemical_list: C483345:PSAP protein, human; D049231:Saposins; D002553:Cerebroside-Sulfatase
keywords: ARSA; PSAP; arylsulfatase A; metachromatic leukodystrophy; mutation; saposin B