Supplementary Materials

Supplementary Material for:

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

Tania F. Gendron, Jeannie Chew, Jeannette N. Stankowski, Lindsey R. Hayes, Yong-Jie Zhang, Mercedes Prudencio, Yari Carlomagno, Lillian M. Daughrity, Karen Jansen-West, Emilie A. Perkerson, Aliesha O'Raw, Casey Cook, Luc Pregent, Veronique Belzil, Marka van Blitterswijk, Lilia J. Tabassian, Chris W. Lee, Mei Yue, Jimei Tong, Yuping Song, Monica Castanedes-Casey, Linda Rousseau, Virginia Phillips, Dennis W. Dickson, Rosa Rademakers, John D. Fryer, Beth K. Rush, Otto Pedraza, Ana M. Caputo, Pamela Desaro, Carla Palmucci, Amelia Robertson, Michael G. Heckman, Nancy N. Dieh, Edythe Wiggs, Michael Tierney, Laura Braun, Jennifer Farren, David Lacomis, Shafeeq Ladha, Christina N. Fournier, Leo F. McCluskey, Lauren B. Elman, Jon B. Toledo, Jennifer D. McBride, Cinzia Tiloca, Claudia Morelli, Barbara Poletti, Federica Solca, Alessandro Prelle, Joanne Wuu, Jennifer Jockel-Balsarotti, Frank Rigo, Christine Ambrose, Abhishek Datta, Weixing Yang, Denitza Raitcheva, Giovanna Antognetti, Alexander McCampbell, John C. Van Swieten, Bruce L. Miller, Adam L. Boxer, Robert H. Brown, Robert Bowser, Timothy M. Miller, John Q. Trojanowski, Murray Grossman, James D. Berry, William T. Hu, Antonia Ratti, Bryan J. Traynor, Matthew D. Disney, Michael Benatar, Vincenzo Silani, Jonathan D. Glass, Mary Kay Floeter, Jeffrey D. Rothstein, Kevin B. Boylan, Leonard Petrucelli*

*Corresponding author. Email: petrucelli.leonard{at}

Published 29 March 2017, Sci. Transl. Med. 9, eaai7866 (2017)
DOI: 10.1126/scitranslmed.aai7866

This PDF file includes:

  • Materials and Methods
  • Fig. S1. Validation of poly(GP) detection in CSF.
  • Fig. S2. Relationships between CSF poly(GP) and ALSFRS-R score, behavioral impairment, and cognitive impairment.
  • Fig. S3. Decreases in RNA foci and c9RAN protein pathology are observed in (G4C2)66 mice treated with c9ASO-1.
  • Fig. S4. Decreases in brain and CSF poly(GP) are observed in (G4C2)66 mice treated with c9ASO-1.
  • Fig. S5. Validation of poly(GA) Meso Scale Discovery sandwich immunoassay.
  • Table S1. Distribution of the 254 subjects among the sites that provided CSF.
  • Table S2. Poly(GP) in CSF from C9ORF72 repeat expansion carriers and noncarriers.
  • Table S3. Associations of poly(GP) with C9ORF72 repeat expansion and disease status.
  • Table S4. Characteristics according to C9ORF72 repeat expansion carrier status.
  • Table S5. Characteristics for asymptomatic C9ORF72 repeat expansion carriers and patients with c9ALS or c9ALS-FTD.
  • Table S6. Poly(GP) in CSF collected longitudinally from C9ORF72 repeat expansion carriers.
  • Table S7. Secondary comparisons of CSF poly(GP) in patients with c9ALS or c9ALS-FTD.
  • Table S8. Neuropsychological test battery for Mayo Clinic and NIH.
  • Table S9. Characteristics according to behavioral impairment in patients with c9ALS or c9ALS-FTD.
  • Table S10. Characteristics according to cognitive impairment in patients with c9ALS or c9ALS-FTD.
  • Table S11. Subject characteristics for PBMCs.
  • Table S12. Subject characteristics for lymphoblastoid cell lines.
  • Table S13. Subject characteristics for iPSC lines.

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