Background: Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of autosomal dominantly inherited spinocerebellar ataxias (SCAs). No validated blood biomarker is available to assess either disease progression or therapeutic response. Neurofilament light chain (NfL) was recently proposed as a serum biomarker for many neurodegenerative disorders. The present study investigated whether NfL was a promising serum biomarker for SCA3.
Methods: Seventeen SCA3 patients and 9 controls were enrolled in cohort A, and 116 SCA3 individuals (preclinical and patients) and 91 controls were recruited as cohort B. We assessed whether serum NfL correlated with cerebrospinal fluid (CSF) NfL in cohort A and correlations between serum NfL levels and clinical features and brain volumes were determined in cohort B. The single-molecule array method was used to measure serum NfL levels. Disease severity was determined using the scale for the assessment and rating of ataxia (SARA) and the international cooperative ataxia rating scale (ICARS). Cerebellar and brainstem volumes were assessed using MRI neuroimaging measurements.
Results: Serum/CSF NfL levels in cohort A were elevated in SCA3 patients, and serum and CSF NfL exhibited a significant positive correlation (r = 0.9179, p < 0.0001). Levels of serum NfL in cohort B were significantly higher in preclinical SCA3 (15.03 ± 7.49 vs 6.88 ± 2.72 pg/ mL, p < 0.0001) and manifest SCA3 subjects (37.56 ± 13.47 vs 9.07 ± 6.02 pg/ mL, p < 0.0001) compared to those in controls. Serum NfL concentrations increased from early disease stage to the next stage. Levels of serum NfL in ATXN3 mutation carriers were positively associated with SARA (r = 0.5458, p < 0.0001) and ICARS scores (r = 0.5522, p < 0.0001). Significant negative associations with cerebellar volumes (r = - 0.4217, p = 0.0003) and brainstem volumes (r = - 0.4263, p = 0.0003) were observed. All changes remained significant after adjustment for age and CAG repeat.
Conclusions: Levels of serum NfL were significantly elevated in SCA3 individuals and correlated with disease severity. Serum NfL is a promising serum biomarker of disease onset and progression, and a potential candidate biomarker of treatment response in SCA3.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829913 | PMC |
| http://dx.doi.org/10.1186/s13024-019-0338-0 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
HIF-1α and VEGF Immunophenotypes as Potential Biomarkers in the Prognosis and Evaluation of Treatment Efficacy of Atherosclerosis: A Systematic Review of the Literature.
Front Biosci (Landmark Ed)
January 2025
Department of Pathology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41500 Larissa, Greece.
Background: Hypoxia-inducible factor 1 alpha (HIF-1α) and its related vascular endothelial growth factor (VEGF) may play a significant role in atherosclerosis and their targeting is a strategic approach that may affect multiple pathways influencing disease progression. This study aimed to perform a systematic review to reveal current evidence on the role of HIF-1α and VEGF immunophenotypes with other prognostic markers as potential biomarkers of atherosclerosis prognosis and treatment efficacy.
Methods: We performed a systematic review of the current literature to explore the role of HIF-1α and VEGF protein expression along with the relation to the prognosis and therapeutic strategies of atherosclerosis.
Testing for myelin oligodendrocyte glycoprotein antibodies: Who, what, where, when, why, and how.
Mult Scler
January 2025
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Testing for myelin oligodendrocyte glycoprotein immunoglobulin G antibodies (MOG-IgG) is essential to the diagnosis of MOG antibody-associated disease (MOGAD). Due to its central role in the evaluation of suspected inflammatory demyelinating disease, the last 5 years has been marked by an abundance of research into MOG-IgG testing ranging from appropriate patient selection, to assay performance, to utility of serum titers as well as cerebrospinal fluid (CSF) testing. In this review, we synthesize current knowledge pertaining to the "who, what, where, when, why, and how" of MOG-IgG testing, with the aim of facilitating accurate MOGAD diagnosis in clinical practice.
View Article and Find Full Text PDFInterpretation of COVID-19 Epidemiological Trends in Mexico Through Wastewater Surveillance Using Simple Machine Learning Algorithms for Rapid Decision-Making.
Viruses
January 2025
School of Engineering and Sciences, Tecnologico de Monterrey, Monterrey 64849, Mexico.
Detection and quantification of disease-related biomarkers in wastewater samples, denominated Wastewater-based Surveillance (WBS), has proven a valuable strategy for studying the prevalence of infectious diseases within populations in a time- and resource-efficient manner, as wastewater samples are representative of all cases within the catchment area, whether they are clinically reported or not. However, analysis and interpretation of WBS datasets for decision-making during public health emergencies, such as the COVID-19 pandemic, remains an area of opportunity. In this article, a database obtained from wastewater sampling at wastewater treatment plants (WWTPs) and university campuses in Monterrey and Mexico City between 2021 and 2022 was used to train simple clustering- and regression-based risk assessment models to allow for informed prevention and control measures in high-affluence facilities, even if working with low-dimensionality datasets and a limited number of observations.
View Article and Find Full Text PDFEffects of Dietary Habits on Markers of Oxidative Stress in Subjects with Hashimoto's Thyroiditis: Comparison Between the Mediterranean Diet and a Gluten-Free Diet.
Nutrients
January 2025
Endocrine Unit, Department of Human Pathology of Adulthood and Childhood DETEV, University of Messina, 98125 Messina, Italy.
Background: The Mediterranean diet (MedD) exerts anti-inflammatory and anti-oxidant effects that are beneficial in autoimmune thyroid diseases (ATD). Recently, a gluten-free diet (GFD) has been proposed for non-celiac patients with Hashimoto's thyroiditis (HT), but its usefulness is under debate. The present pilot study evaluates the effects of these two dietary regimes, with a focus on redox homeostasis, in HT.
View Article and Find Full Text PDFCurcumin and Vitamin D Supplement Attenuates Knee Osteoarthritis Progression in ACLT + MMx Rat Model: Effect on Cartilage Protection and Pain Reduction.
Nutrients
January 2025
Department of Anesthesiology, Cathay General Hospital, Taipei 280, Taiwan.
Knee osteoarthritis (OA) is a common and debilitating disorder marked by joint degradation, inflammation, and persistent pain. This study examined the possible therapeutic effects of curcumin and vitamin D on OA progression and pain in a rat knee OA model by anterior cruciate ligament transection and meniscectomy (ACLT + MMx). Male Wistar rats were categorized into five groups: control, curcumin-treated (100 mg/kg/day), vitamin D-treated (25 µg/kg/day), a combination of vitamin D and curcumin, and sham-operated.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!