TDP-43 plasma levels are higher in amyotrophic lateral sclerosis

Esther Verstraete, H. Bea Kuiperij, Marka M. Van Blitterswijk, Jan H. Veldink, H. Jurgen Schelhaas, Leonard H. Van Den Berg, Marcel M. Verbeek

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


Our objective was to investigate TDP-43 plasma levels in patients with amyotrophic lateral sclerosis (ALS). TDP-43 has been identified as a major component of protein inclusions in the brain of patients with ALS; mutations in the corresponding gene (TARDBP) have also been identified. Although increased TDP-43 levels have been reported in the cerebrospinal fluid, plasma levels have not yet been assessed in patients with ALS. TDP-43 levels were quantified by sandwich ELISA in plasma of 219 patients and 100 controls. In addition, we sequenced exon 6 of TARDBP, and performed longitudinal TDP-43 plasma measurements in a subset of patients. Results showed that TDP-43 plasma levels were significantly increased in patients with ALS (p 0.023) and we found a positive correlation with age in patients and controls. Longitudinal measurements of TDP-43 plasma levels showed an increase in only one patient, with stable levels in five others. Three TARDBP variations were identified in the ALS group (1.7%), but the association with TDP-43 plasma levels was ambiguous. In conclusion, our data indicate that TDP-43 plasma levels may have potential as a marker for ALS. A genotype-phenotype relationship could not, however, be established in this cohort.

Original languageEnglish (US)
Pages (from-to)446-451
Number of pages6
JournalAmyotrophic Lateral Sclerosis
Issue number5
StatePublished - Sep 2012


  • Amyotrophic lateral sclerosis
  • Biomarker
  • Plasma
  • TAR DNA binding protein of 43 kDa (TDP-43)

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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