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

doi:10.1016/j.ymgme.2011.11.201

Sammanfattning

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.

Nyckelord

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

Publicerad i

Molecular Genetics and Metabolism
2012, volym: 105, nummer: 3, sidor: 472-478
Utgivare: ACADEMIC PRESS INC ELSEVIER SCIENCE

SLU författare

Moritz, Thomas
- Institutionen för skoglig genetik och växtfysiologi, Sveriges lantbruksuniversitet

UKÄ forskningsämne

Neurovetenskaper

Publikationens identifierare

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

Permanent länk till denna sida (URI)

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