Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that effects neurons in the brain and spinal cord. It leads to gradual paralysis, ultimately resulting in the inability to walk, speak, or, in later stages, move. Currently, diagnosis is based on a thorough clinical examination, but it can take up to 12 months to provide a definitive diagnosis, by which time many patients have significantly deteriorated. Misdiagnosis rates vary widely, occurring in as many as 68 percent of cases, further complicating timely and accurate treatment. Researchers from the not-for-profit Brain Chemistry Labs in Jackson Hole, Wyoming, engineered an highly accurate diagnostic blood test has been developed for ALS.
The diagnostic test requires only a simple blood draw and is based on small sequences of nucleic acids, known as microRNA, extracted from tiny vesicles released by the brain and nervous system. Analysis of microRNA sequences from hundreds of patient samples allowed researchers to develop a unique “ALS fingerprint” comprising eight distinct microRNA sequences. These sequences can sensitively and specifically distinguish blood samples of ALS patients from healthy controls and from patients with conditions that mimic ALS in its early stages, with an overall accuracy of up to 98%. The eraly investigation was published in 2022, where one hundred blinded, blood plasma samples were analyzed.
Thirty-five men and 15 women with ALS were compared with controls consisting of 30 men and 20 women. None of the ALS patient cohort reported family members with ALS suggesting sporadic ALS. Five of the eight biomarkers previously published were found to significantly discriminate ALS patient samples from control samples. Scientists hope the test will become a tool to help neurologists make more rapid diagnoses. This new test follows on the heels of three prior validation studies using different patient cohorts for a total sample size of 471, with many of the samples provided by the USA National ALS Biorepository. The research has been published today in the journal Brain Communications produced by Oxford University Press.
- Edited by Dr. Gianfrancesco Cormaci, PhD, specialist in Clinical Biochemistry.
Scientific references
Banack S et al. Brain Commun. 2024 Sept 13; in press.
Garamszegi SP et al. Toxicol Rep. 2023 Jan; 10:87-96.
Banack SA et al. J Neurol Sci. 2022 Nov 15; 442:120396.