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@ARTICLE{Barschke:151071,
      author       = {Barschke, Peggy and Oeckl, Patrick and Steinacker, Petra
                      and Al Shweiki, MHD Rami and Weishaupt, Jochen H and
                      Landwehrmeyer, G Bernhard and Anderl-Straub, Sarah and
                      Weydt, Patrick and Diehl-Schmid, Janine and Danek, Adrian
                      and Kornhuber, Johannes and Schroeter, Matthias L and
                      Prudlo, Johannes and Jahn, Holger and Fassbender, Klaus and
                      Lauer, Martin and van der Ende, Emma Louise and van Swieten,
                      John Cornelis and Volk, Alexander E and Ludolph, Albert C
                      and Otto, Markus},
      title        = {{D}ifferent {CSF} protein profiles in amyotrophic lateral
                      sclerosis and frontotemporal dementia with {C}9orf72
                      hexanucleotide repeat expansion},
      journal      = {Journal of neurology, neurosurgery, and psychiatry},
      volume       = {91},
      number       = {5},
      issn         = {0022-3050},
      address      = {London},
      publisher    = {BMJ Publishing Group},
      reportid     = {DZNE-2020-01056},
      pages        = {503-511},
      year         = {2020},
      abstract     = {Objectives The hexanucleotide repeat expansion in the
                      C9orf72 gene is the most common mutation associated with
                      amyotrophic lateral sclerosis (C9-ALS) and frontotemporal
                      dementia (C9-FTD). Until now, it is unknown which factors
                      define whether C9orf72 mutation carriers develop ALS or FTD.
                      Our aim was to identify protein biomarker candidates in the
                      cerebrospinal fluid (CSF) which differentiate between C9-ALS
                      and C9-FTD and might be indicative for the outcome of the
                      mutation.Methods We compared the CSF proteome of 16 C9-ALS
                      and 8 C9-FTD patients and 11 asymptomatic C9orf72 mutation
                      carriers (CAR) by isobaric tags for relative and absolute
                      quantitation. Eleven biomarker candidates were selected from
                      the pool of differentially regulated proteins for further
                      validation by multiple reaction monitoring and
                      single-molecule array in a larger cohort (n=156).Results In
                      total, 2095 CSF proteins were identified and 236 proteins
                      were significantly different in C9-ALS versus C9-FTD
                      including neurofilament medium polypeptide (NEFM) and
                      chitotriosidase-1 (CHIT1). Eight candidates were
                      successfully validated including significantly increased
                      ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCHL1)
                      levels in C9-ALS compared with C9-FTD and controls and
                      decreased neuronal pentraxin receptor (NPTXR) levels in
                      C9-FTD versus CAR.Conclusions This study presents a deep
                      proteomic CSF analysis of C9-ALS versus C9-FTD patients. As
                      a proof of concept, we observed higher NEFM and CHIT1 CSF
                      levels in C9-ALS. In addition, we also show clear
                      upregulation of UCHL1 in C9-ALS and downregulation of NPTXR
                      in C9-FTD. Significant differences in UCHL1 CSF levels may
                      explain diverging ubiquitination and autophagy processes and
                      NPTXR levels might reflect different synapses organisation
                      processes.},
      keywords     = {Adult / Aged / Amyotrophic Lateral Sclerosis: cerebrospinal
                      fluid / Amyotrophic Lateral Sclerosis: genetics /
                      Biomarkers: cerebrospinal fluid / C9orf72 Protein: genetics
                      / DNA Repeat Expansion: genetics / Female / Frontotemporal
                      Dementia: cerebrospinal fluid / Frontotemporal Dementia:
                      genetics / Hexosaminidases: cerebrospinal fluid / Humans /
                      Male / Middle Aged / Neurofilament Proteins: cerebrospinal
                      fluid / Proteome: analysis / Single Molecule Imaging},
      cin          = {Bonn Pre 2020 / U Clinical Researchers - München},
      ddc          = {610},
      cid          = {I:(DE-2719)6000011 / I:(DE-2719)7000003},
      pnm          = {344 - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32132225},
      doi          = {10.1136/jnnp-2019-322476},
      url          = {https://pub.dzne.de/record/151071},
}