Surreal digital illustration of ALS biomarker research.

ALS Biomarkers: Are We Closer to Early Detection?

Avery Sinclair in Health & Wellness December 2025 • 4 min read.

"A deep dive into the cerebrospinal fluid and blood biomarkers that may revolutionize amyotrophic lateral sclerosis diagnosis and management."

Amyotrophic lateral sclerosis (ALS), a progressive and debilitating neurodegenerative disease, poses a significant challenge to healthcare. Affecting individuals typically within a few years of symptom onset, ALS lacks a cure, and its underlying mechanisms remain poorly understood. The pressing need for validated biomarkers has driven research to improve early diagnosis and disease management.

Biomarkers, objectively measured indicators of pathological processes, are critical for tracking disease progression and gauging treatment response. Body fluids, especially cerebrospinal fluid (CSF) and blood, are prime targets for biomarker discovery. CSF's direct interaction with the central nervous system makes it highly sensitive to neurological changes, while blood samples offer an accessible alternative, albeit with potentially lower sensitivity.

Recent systematic review and meta-analysis focuses on eleven frequently studied biomarkers in ALS, assessing their concentrations in CSF and blood of diagnosed patients compared to controls. By evaluating these biomarkers, researchers aim to identify potential diagnostic and prognostic tools, moving closer to personalized strategies for combating ALS.

Decoding ALS with Fluid Biomarkers: What the Research Reveals

Surreal digital illustration of ALS biomarker research.

Researchers conducted a comprehensive analysis of existing studies to evaluate the potential of specific biomarkers in diagnosing and understanding ALS. The study followed rigorous guidelines (PRISMA-P) to ensure a systematic and unbiased approach. They looked at observational studies that measured the levels of certain substances in the cerebrospinal fluid (CSF) and blood of ALS patients and compared them to those without the condition.

The analysis focused on the following key biomarkers:

Amyloid beta (Aβ-42)
Tau and phosphorylated tau (p-Tau)
Neurofilaments
S100β
Cystatin C
Progranulin (PGRN)
Glial fibrillary acidic protein (GFAP)
Monocyte chemoattractant protein-1 (MCP-1)
Brain-derived neurotrophic factor (BDNF)
TAR DNA-binding protein-43 (TDP43)
YKL-40
Chitotriosidase (CHIT1)

The study aimed to determine if there were significant differences in the levels of these biomarkers between ALS patients and healthy individuals. Further analyses explored how these biomarker levels might correlate with factors like disease severity, gender, and genetic mutations. Ultimately, the research sought to identify reliable biomarkers that could aid in early diagnosis, predict disease progression, and potentially serve as targets for future therapies.

The Future of ALS Treatment: Biomarkers as Guiding Lights

This systematic review and meta-analysis is a crucial step toward understanding the complex landscape of ALS biomarkers. By synthesizing existing research, the study aims to pinpoint reliable markers that can differentiate ALS patients from healthy individuals. Furthermore, it seeks to uncover how these biomarkers relate to the clinical characteristics of the disease, paving the way for personalized treatment strategies.

The identification of robust biomarkers holds immense potential for improving ALS diagnosis and management. Early detection could allow for timely interventions, potentially slowing disease progression and improving quality of life. Biomarkers could also aid in patient stratification, ensuring that individuals receive the most appropriate and effective therapies based on their unique disease profiles.

Ultimately, this research strives to guide future investigations, fostering the development of targeted therapies and diagnostic tools that can transform the lives of those affected by ALS. The search for reliable biomarkers represents a beacon of hope in the fight against this devastating condition.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

This article is based on research published under:

DOI-LINK: 10.1186/s13643-018-0913-4, Alternate LINK

Title: Csf And Blood Biomarkers In Amyotrophic Lateral Sclerosis: Protocol For A Systematic Review And Meta-Analysis

Subject: Medicine (miscellaneous)

Journal: Systematic Reviews

Publisher: Springer Science and Business Media LLC

Authors: Elmira Agah, Fatemeh Saleh, Hossein Sanjari Moghaddam, Amene Saghazadeh, Abbas Tafakhori, Nima Rezaei

Published: 2018-12-01

Everything You Need To Know

What are ALS biomarkers, and why are they important?

Biomarkers in ALS are objectively measured indicators of pathological processes that can be found in body fluids like cerebrospinal fluid (CSF) and blood. These biomarkers, such as Amyloid beta (Aβ-42), Tau and phosphorylated tau (p-Tau), and Neurofilaments, help in tracking the progression of ALS and evaluating the response to different treatments. Validated biomarkers are crucial because ALS lacks a cure, and its underlying mechanisms are not fully understood. Their use can lead to earlier diagnosis and better disease management.

Why is cerebrospinal fluid (CSF) considered a prime target for biomarker discovery in ALS, and how does it compare to using blood samples?

Cerebrospinal fluid (CSF) is a prime target for biomarker discovery in ALS research because of its direct interaction with the central nervous system. This close proximity makes CSF highly sensitive to neurological changes associated with ALS. While blood samples offer an easier and more accessible method for biomarker analysis, they may have lower sensitivity compared to CSF due to the dilution of biomarkers in the bloodstream and the presence of other interfering substances.

Which specific biomarkers were examined in the systematic review and meta-analysis, and what samples were tested?

The systematic review and meta-analysis examined biomarkers like Amyloid beta (Aβ-42), Tau and phosphorylated tau (p-Tau), Neurofilaments, S100β, Cystatin C, Progranulin (PGRN), Glial fibrillary acidic protein (GFAP), Monocyte chemoattractant protein-1 (MCP-1), Brain-derived neurotrophic factor (BDNF), TAR DNA-binding protein-43 (TDP43), YKL-40, and Chitotriosidase (CHIT1). Researchers measured the levels of these biomarkers in cerebrospinal fluid (CSF) and blood samples from ALS patients and compared them to those from healthy individuals.

How could the research on ALS biomarkers lead to more personalized treatment strategies for patients?

This research into ALS biomarkers has implications for personalized treatment strategies. By identifying reliable markers that differentiate ALS patients from healthy individuals and relate to the clinical characteristics of the disease, clinicians can tailor treatments to the specific needs of each patient. For example, if a patient shows elevated levels of Neurofilaments, a treatment targeting neuroinflammation might be considered. This approach aims to improve treatment effectiveness and overall patient outcomes.

What measures were taken to ensure the ALS biomarker study was unbiased and systematic?

The systematic review and meta-analysis followed rigorous guidelines (PRISMA-P) to ensure a systematic and unbiased approach when evaluating the potential of specific biomarkers in diagnosing and understanding ALS. The study analyzed observational studies that measured biomarker levels in cerebrospinal fluid (CSF) and blood of ALS patients, comparing them to individuals without ALS. It is crucial to minimize bias by employing stringent methodologies and standardized reporting protocols.