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Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients
TLDR
Neurofilaments in CSF have a high relevance for the differential diagnosis of MNDs and should be included in the diagnostic work-up of patients and their value as prognostic markers should be investigated further.
Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis
TLDR
Serum NFL is increased in ALS in comparison to other conditions and can serve as diagnostic and prognostic biomarker and establish a cut-off level for the diagnosis of ALS.
Chitotriosidase (CHIT1) is increased in microglia and macrophages in spinal cord of amyotrophic lateral sclerosis and cerebrospinal fluid levels correlate with disease severity and progression
TLDR
CHIT1 could be a potentially useful marker for differential diagnosis and prediction of disease progression in ALS and, therefore, seems suitable as a supplemental marker for patient stratification in therapeutic trials.
Limited role of free TDP-43 as a diagnostic tool in neurodegenerative diseases
TLDR
Investigation of paired CSF and serum samples, blood lymphocytes, brain urea fractions and purified exosomes from CSF for TDP-43 by one- (1D) and two-dimensional (2D) Western immunoblotting and quantitative mass spectrometry in patients with ALS, FTLD and non-neurodegenerative diseases concludes that T DP-43 in CSF originates mainly from blood.
Multicenter evaluation of neurofilaments in early symptom onset amyotrophic lateral sclerosis
TLDR
This study provides Class II evidence that CSF and serum Nf concentrations discriminate ALS with early symptom onset from other neurologic diseases.
Towards a TDP-43-Based Biomarker for ALS and FTLD
TLDR
Reflecting on the molecular pathology of TDP-43, this review provides a critical overview on biofluid studies and future directions to develop a T DP-43-based clinical biomarker for ALS and FTLD.
Intact protein analysis of ubiquitin in cerebrospinal fluid by multiple reaction monitoring reveals differences in Alzheimer's disease and frontotemporal lobar degeneration.
TLDR
The LC-MS/MS method may facilitate ubiquitin determination to a broader community and might help to discriminate AD, CJD, and FTLD patients.
Neurochemical biomarkers in the diagnosis of frontotemporal lobar degeneration: an update
TLDR
The advances in CSF biomarker research in FTLD in the last 2 years are reviewed with regard to the validation of previously suggested and identification of new biomarker candidates for the differential diagnosis of FTLD.
Amyotrophic lateral sclerosis: the complex path to precision medicine
TLDR
Although there are major gaps in the understanding of the essential nature of ALS pathophysiology, the identification of genetic causes in up to 15% of ALS patients, coupled with advances in biotechnology and biomarker research provide a foundation for approaches to treatment based on ‘precision medicine’, and even prevention of the disease in pre-symptomatic mutation carriers in the future.
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