Potential Diagnostic Biomarkers for Amyotrophic Lateral Sclerosis Identified in Study

Recent research identified molecules in  the cerebrospinal fluid of people with amyotrophic lateral sclerosis,  particularly phosphorylated neurofilament heavy chain (pNfH), to be likely biomarkers for diagnosing ALS.

ALS, an aggressive neurological disorder, is now diagnosed based on clinical evaluation. Biomarkers in the diagnostic process would allow clinicians to more easily distinguish ALS from other possible conditions. Objective biomarkers might also be of help in predicting the disease’s progression and a patient’s prognosis.

Some possible ALS biomarker candidates have been identified in cerebrospinal fluid, and include neurofilament proteins, S100-β, cystatin C, and chitotriosidase (CHIT).

In the study, “Assessment of a multiple biomarker panel for diagnosis of amyotrophic lateral sclerosis,” published in journal BMC Neurology , researchers aimed to identify which biomarkers would be the most effective and to determine the diagnostic potential of several biomarker combinations.

The study involved 40 patients clinically diagnosed with definite or probable sporadic ALS. To allow a correct comparison, 40 age- and sex-matched control patients diagnosed with non-ALS neurological diseases were also included.

Researchers focused on several candidate ALS biomarkers, specifically pNfH, S100-β, cystatin C, and CHIT.

They identified that the cerebrospinal fluid  levels of pNfH and CHIT were significantly higher in patients compared to controls, and pNfH levels, specifically, correlated with ALS severity and progression. This biomarker, indeed, allowed the researchers to distinguish ALS patients from controls in a very specific and sensitive manner. Furthermore, analyzing the levels of pNfH in combination with CHIT levels allowed a better and more accurate diagnosis.

In contrast, levels of cystatin C were found to be significantly lower in ALS patients.

Due the potential importance of these findings, made in a small group of patients, the authors highlighted the need for further and larger studies. Due to the broad spectrum of ALS phenotypes, it would also be important to verify the ability of these biomarkers to differentiate ALS from related disorders.

Nevertheless, the results seemed to identify pNfH and CHIT as likely neuropathological hallmarks of ALS.