Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy

Martina Cesani, Laura Lorioli, Serena Maria Grossi, Giulia Amico, Francesca Fumagalli, Ivana Spiga, Mirella Filocamo, Alessandra Biffi

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)16-27
Number of pages12
JournalHuman Mutation
Volume37
Issue number1
DOIs
Publication statusPublished - Jan 1 2016

Keywords

  • ARSA
  • Arylsulfatase A
  • Metachromatic leukodystrophy
  • Mutation
  • PSAP
  • Saposin B

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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