Nature Communications (May 2022)
Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD
- Gopinath Krishnan,
- Denitza Raitcheva,
- Daniel Bartlett,
- Mercedes Prudencio,
- Diane M. McKenna-Yasek,
- Catherine Douthwright,
- Björn E. Oskarsson,
- Shafeeq Ladha,
- Oliver D. King,
- Sami J. Barmada,
- Timothy M. Miller,
- Robert Bowser,
- Jonathan K. Watts,
- Leonard Petrucelli,
- Robert H. Brown,
- Mark W. Kankel,
- Fen-Biao Gao
Affiliations
- Gopinath Krishnan
- Department of Neurology, University of Massachusetts Chan Medical School
- Denitza Raitcheva
- Biomarkers, Clinical Sciences Biogen
- Daniel Bartlett
- Biomarkers, Clinical Sciences Biogen
- Mercedes Prudencio
- Department of Neuroscience, Mayo Clinic
- Diane M. McKenna-Yasek
- Department of Neurology, University of Massachusetts Chan Medical School
- Catherine Douthwright
- Department of Neurology, University of Massachusetts Chan Medical School
- Björn E. Oskarsson
- Department of Neurology, Mayo Clinic
- Shafeeq Ladha
- Departments of Neurology and Translational Neuroscience, St. Joseph’s Hospital and Medical Center and Barrow Neurological Institute
- Oliver D. King
- Department of Neurology, University of Massachusetts Chan Medical School
- Sami J. Barmada
- Department of Neurology, University of Michigan, 4005 BSRB
- Timothy M. Miller
- Department of Neurology, Washington University
- Robert Bowser
- Departments of Neurology and Translational Neuroscience, St. Joseph’s Hospital and Medical Center and Barrow Neurological Institute
- Jonathan K. Watts
- RNA Therapeutics Institute and Department of Biochemistry and Molecular Pharmacology, UMass Chan Medical School
- Leonard Petrucelli
- Department of Neuroscience, Mayo Clinic
- Robert H. Brown
- Department of Neurology, University of Massachusetts Chan Medical School
- Mark W. Kankel
- Neuromuscular & Movement Disorders, Biogen
- Fen-Biao Gao
- Department of Neurology, University of Massachusetts Chan Medical School
- DOI
- https://doi.org/10.1038/s41467-022-30387-4
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 8
Abstract
The GGGGCC repeat expansion in C9ORF72-ALS/FTD can be translated into five dipeptide repeat (DPR) proteins, including poly(GR) and poly(GA). Here, the authors develop assays to detect the levels of these DPR proteins in the CSF of individuals with ALS/FTD.
