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Research article2012Peer reviewed

ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations

Wuolikainen, A; Andersen, Peter M.; Moritz, Thomas; Marklund, Stefan L; Antti, Henrik

Abstract

ALS-patients with a SOD1 gene mutation appear as a distinct metabolic entity in the CSF, in particular in patients with the D90A mutation, the most frequently identified cause of ALS. The findings suggest that metabolomic profiling using GC-TOFMS and multivariate data analysis may be a future tool for diagnosing and monitoring disease progression, and may cast light on the disease mechanisms in ALS. (C) 2011 Elsevier Inc. All rights reserved.

Keywords

Amyotrophic lateral sclerosis (ALS); Biomarker; Chemometrics; Cerebrospinal fluid (CSF); D90A SOD1; Metabolomics

Published in

Molecular Genetics and Metabolism
2012, Volume: 105, number: 3, pages: 472-478
Publisher: ACADEMIC PRESS INC ELSEVIER SCIENCE

    UKÄ Subject classification

    Neurosciences

    Publication identifier

    DOI: https://doi.org/10.1016/j.ymgme.2011.11.201

    Permanent link to this page (URI)

    https://res.slu.se/id/publ/42599