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Comment
. 2017 Jul;9(7):853-855.
doi: 10.15252/emmm.201707848.

Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies

Rubika Balendra  1   2 , Thomas G Moens  1   2 , Adrian M Isaacs  1
Affiliations
Comment

Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies

Rubika Balendra et al. EMBO Mol Med. 2017 Jul.

Abstract

A hexanucleotide repeat expansion in the C9orf72 gene is a common genetic cause of ALS and FTD. The repeats are translated into five different dipeptide repeat proteins (DPRs). In this issue, Lehmer et al (2017) demonstrate that one of these DPRs, poly(GP), can be measured in the CSF of individuals with C9orf72 mutations. In conjunction with the findings from another recent study (Gendron et al, 2017), these DPR biomarkers may prove to be extremely valuable in the quest for effective therapies for C9FTD/ALS.

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Figures

Figure 1
Figure 1. C9FTD/ALS CSF biomarkers
CSF poly(GP) is similar in asymptomatic and symptomatic individuals, whilst CSF neurofilaments are detected in symptomatic individuals.
See this image and copyright information in PMC

Comment on

  • Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.
    Gendron TF, Chew J, Stankowski JN, Hayes LR, Zhang YJ, Prudencio M, Carlomagno Y, Daughrity LM, Jansen-West K, Perkerson EA, O'Raw A, Cook C, Pregent L, Belzil V, van Blitterswijk M, Tabassian LJ, Lee CW, Yue M, Tong J, Song Y, Castanedes-Casey M, Rousseau L, Phillips V, Dickson DW, Rademakers R, Fryer JD, Rush BK, Pedraza O, Caputo AM, Desaro P, Palmucci C, Robertson A, Heckman MG, Diehl NN, Wiggs E, Tierney M, Braun L, Farren J, Lacomis D, Ladha S, Fournier CN, McCluskey LF, Elman LB, Toledo JB, McBride JD, Tiloca C, Morelli C, Poletti B, Solca F, Prelle A, Wuu J, Jockel-Balsarotti J, Rigo F, Ambrose C, Datta A, Yang W, Raitcheva D, Antognetti G, McCampbell A, Van Swieten JC, Miller BL, Boxer AL, Brown RH, Bowser R, Miller TM, Trojanowski JQ, Grossman M, Berry JD, Hu WT, Ratti A, Traynor BJ, Disney MD, Benatar M, Silani V, Glass JD, Floeter MK, Rothstein JD, Boylan KB, Petrucelli L. Gendron TF, et al. Sci Transl Med. 2017 Mar 29;9(383):eaai7866. doi: 10.1126/scitranslmed.aai7866. Sci Transl Med. 2017. PMID: 28356511 Free PMC article.
  • Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.
    Lehmer C, Oeckl P, Weishaupt JH, Volk AE, Diehl-Schmid J, Schroeter ML, Lauer M, Kornhuber J, Levin J, Fassbender K, Landwehrmeyer B; German Consortium for Frontotemporal Lobar Degeneration; Schludi MH, Arzberger T, Kremmer E, Flatley A, Feederle R, Steinacker P, Weydt P, Ludolph AC, Edbauer D, Otto M. Lehmer C, et al. EMBO Mol Med. 2017 Jul;9(7):859-868. doi: 10.15252/emmm.201607486. EMBO Mol Med. 2017. PMID: 28408402 Free PMC article.

References

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Publication types

Supplementary concepts