PT  - JOURNAL ARTICLE
AU  - Patrick Oeckl
AU  - Patrick Weydt
AU  - Petra Steinacker
AU  - Sarah Anderl-Straub
AU  - Frida Nordin
AU  - Alexander E Volk
AU  - Janine Diehl-Schmid
AU  - Peter M Andersen
AU  - Johannes Kornhuber
AU  - Adrian Danek
AU  - Klaus Fassbender
AU  - Klaus Fliessbach
AU  - German Consortium for Frontotemporal Lobar Degeneration
AU  - Holger Jahn
AU  - Martin Lauer
AU  - Kathrin Müller
AU  - Antje Knehr
AU  - Johannes Prudlo
AU  - Anja Schneider
AU  - Dietmar R Thal
AU  - Deniz Yilmazer-Hanke
AU  - Jochen H Weishaupt
AU  - Albert C Ludolph
AU  - Markus Otto
TI  - Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase
AID  - 10.1136/jnnp-2018-318868
DP  - 2019 Jan 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 4--10
VI  - 90
IP  - 1
4099  - http://jnnp.bmj.com/content/90/1/4.short
4100  - http://jnnp.bmj.com/content/90/1/4.full
SO  - J Neurol Neurosurg Psychiatry2019 Jan 01; 90
AB  - Objective To investigate the role of neuroinflammation in asymptomatic and symptomatic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) mutation carriers.Methods The neuroinflammatory markers chitotriosidase 1 (CHIT1), YKL-40 and glial fibrillary acidic protein (GFAP) were measured in cerebrospinal fluid (CSF) and blood samples from asymptomatic and symptomatic ALS/FTD mutation carriers, sporadic cases and controls by ELISA.Results CSF levels of CHIT1, YKL-40 and GFAP were unaffected in asymptomatic mutation carriers (n=16). CHIT1 and YKL-40 were increased in gALS (p<0.001, n=65) whereas GFAP was not affected. Patients with ALS carrying a CHIT1 polymorphism had lower CHIT1 concentrations in CSF (−80%) whereas this polymorphism had no influence on disease severity. In gFTD (n=23), increased YKL-40 and GFAP were observed (p<0.05), whereas CHIT1 was nearly not affected. The same profile as in gALS and gFTD was observed in sALS (n=64/70) and sFTD (n=20/26). CSF and blood concentrations correlated moderately (CHIT1, r=0.51) to weak (YKL-40, r=0.30, GFAP, r=0.39). Blood concentrations of these three markers were not significantly altered in any of the groups except CHIT1 in gALS of the Ulm cohort (p<0.05).Conclusion Our data indicate that neuroinflammation is linked to the symptomatic phase of ALS/FTD and shows a similar pattern in sporadic and genetic cases. ALS and FTD are characterised by a different neuroinflammatory profile, which might be one driver of the diverse presentations of the ALS/FTD syndrome.