Abstract
BackgroundThe aim of the study was to assess a panel of promising biomarkers for their ability to improve diagnosis of sporadic amyotrophic lateral sclerosis (ALS).MethodsForty patients with sporadic ALS and 40 controls with other neurological diseases were evaluated. Levels of phosphorylated neurofilament heavy chain (pNfH), S100-β, cystatin C, and chitotriosidase (CHIT) in cerebrospinal fluid were assayed using two-site solid-phase sandwich ELISA.ResultsPatients with sporadic ALS showed higher levels of pNfH and CHIT than controls, but lower levels of cystatin C. Multivariate logistic regression that adjusted for patient age and sex identified significant associations between sporadic ALS and levels of pNfH, CHIT and cystatin C. Levels of pNfH correlated positively with rate of progression and decline based on the Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised. Based on receiver operating curve analysis, a pNfH cut-off of 437 ng/L discriminated patients from controls with a sensitivity of 97.3 % and specificity of 83.8 %. A CHIT cut-off of 1593.779 ng/L discriminated patients from controls with a sensitivity of 83.8 % and specificity of 81.1 %. Combining the two biomarkers gave a sensitivity of 83.8 % and specificity of 91.9 %.ConclusionsLevels of pNfH in cerebrospinal fluid may be a reliable biomarker for diagnosing ALS, and combining this biomarker with levels of CHIT may improve diagnostic accuracy.
Highlights
The aim of the study was to assess a panel of promising biomarkers for their ability to improve diagnosis of sporadic amyotrophic lateral sclerosis (ALS)
In this study, we found that levels of phosphorylated neurofilament heavy chain (pNfH) in cerebrospinal fluid (CSF) were significantly higher in patients with sporadic ALS than
Levels of pNfH and CHIT in CSF were significantly higher in patients than in controls, while levels of cystatin C were significantly lower in patients
Summary
The aim of the study was to assess a panel of promising biomarkers for their ability to improve diagnosis of sporadic amyotrophic lateral sclerosis (ALS). Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder. It is diagnosed based on purely on clinical evaluation and differential diagnosis to exclude other possible conditions, highlighting the need to identify objective biomarkers that may aid diagnosis and perhaps help predict progression and prognosis. Several candidate ALS biomarkers have been identified in cerebrospinal fluid (CSF), including neurofilament proteins, S100-β, cystatin C, and chitotriosidase (CHIT) [1, 2]. The validity of these biomarkers remains controversial, since they were identified using targeted approaches rather than unbiased screens and they have. Our objective was to identify, in parallel comparisons, which biomarker(s) may be the most effective, as well as assess the diagnostic potential of biomarker combinations
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
