PuSH - Publikationsserver des Helmholtz Zentrums München: Poly-GP in cerebrospinal fluid links<em> C9orf72</em>-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.

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Lehmer, C.* ; Oeckl, P.* ; Weishaupt, J.H.* ; Volk, A.E.* ; Diehl-Schmid, J.* ; Schroeter, M.L.* ; Lauer, M.* ; Kornhuber, J.* ; Levin, J.* ; Fassbender, K.* ; Landwehrmeyer, B.* ; Schludi, M.H.* ; Arzberger, T.* ; Kremmer, E. ; Flatley, A. ; Feederle, R. ; Steinacker, P.* ; Weydt, P.* ; Ludolph, A.C.* ; Edbauer, D.* ; Otto, M.*

Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.

EMBO Mol. Med. 9, 859-868 (2017)

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The C9orf72 GGGGCC repeat expansion is a major cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD). Non-conventional repeat translation results in five dipeptide repeat proteins (DPRs), but their clinical utility, overall significance, and temporal course in the pathogenesis of c9ALS/FTD are unclear, although animal models support a gain-of-function mechanism. Here, we established a poly-GP immunoassay from cerebrospinal fluid (CSF) to identify and characterize C9orf72 patients. Significant poly-GP levels were already detectable in asymptomatic C9orf72 mutation carriers compared to healthy controls and patients with other neurodegenerative diseases. The poly-GP levels in asymptomatic carriers were similar to symptomatic c9ALS/FTD cases. Poly-GP levels were not correlated with disease onset, clinical scores, and CSF levels of neurofilaments as a marker for axonal damage. Poly-GP determination in CSF revealed a C9orf72 mutation carrier in our cohort and may thus be used as a diagnostic marker in addition to genetic testing to screen patients. Presymptomatic expression of poly-GP and likely other DPR species may contribute to disease onset and thus represents an alluring therapeutic target.

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