Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion.
Peggy BarschkePatrick OecklPetra SteinackerMhd Rami Al ShweikiJochen H WeishauptG Bernhard LandwehrmeyerSarah Anderl-StraubPatrick WeydtJanine Diehl-SchmidAdrian DanekJohannes KornhuberMatthias L SchroeterJohannes PrudloHolger JahnKlaus FassbenderMartin LauerEmma Louise van der EndeJohn Cornelis van SwietenAlexander E VolkAlbert C LudolphMarkus Ottonull nullPublished in: Journal of neurology, neurosurgery, and psychiatry (2020)
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.
Keyphrases
- end stage renal disease
- amyotrophic lateral sclerosis
- signaling pathway
- cell proliferation
- newly diagnosed
- chronic kidney disease
- ejection fraction
- cerebrospinal fluid
- cell death
- prognostic factors
- peritoneal dialysis
- poor prognosis
- endoplasmic reticulum stress
- patient reported outcomes
- small molecule
- long non coding rna
- binding protein
- amino acid