Introduction: Multiple sclerosis (MS) is a chronic autoimmune neurological disease with a variable prognosis and unpredictable course. Fatigue, pain and low mood are common symptoms that tend to fluctuate in people with MS (pwMS). Disrupted circadian rhythms may have a role in the symptoms' variability. Distinguishing interindividual differences and temporal daily fluctuations in MS symptoms may help to define specific symptomatic phenotypes. Understanding how these phenotypes are associated with quality of life and their immunological underpinnings-immune profiles-could shape new MS management strategies. Our primary aim is to document ongoing fluctuations in fatigue, pain and mood in a cohort of pwMS to determine whether symptom variability is associated with differential quality of life. Our secondary aim is to evaluate the feasibility of our study design to identify immune profiles of circadian rhythmicity in MS.
Methods And Analysis: This observational cohort study examines individual temporal fluctuations in MS symptomatology via ecological momentary assessment in a cohort of pwMS. All participants complete (1) a baseline battery of questionnaires and (2) electronic symptom-tracking diaries to rate fatigue, pain intensity and mood on a 0-10 scale at three time points (08:00, 14:00 and 20:00) for 10 days. Participants will be grouped into symptomatic phenotypes based on longitudinal data from e-diaries. We will assess whether exhibiting a specific phenotype is associated with certain baseline measures. A subgroup of 20 participants-feasibility study-will also complete blood sample collection two times within 24 hours to study immune profiles and molecular markers of circadian rhythmicity in MS. Flow cytometry, whole blood RNA sequencing and plasma analyses will be applied to determine changes in immune profiles indicative of circadian rhythmicity.This work has the potential to reduce the burden of this complex disease on a global scale. Future studies will build on our work to understand individual variability in MS symptomatology, including disease severity; identification of biomarkers underlying the association between rhythmic symptomatology profiles and symptomatic phenotypes in MS; and designing personalised interventions focused on interindividual differences in symptomatology and circadian rhythmicity.
Ethics And Dissemination: The CircaMS project and its associated procedures have been reviewed and approved by the Queen's University Health Sciences and Affiliated Teaching Hospitals research ethics board (File number: 6039383). Participants provide informed consent to participate, and their data will not be identifiable in any publication or report. All documents are stored securely and only accessible by study staff and authorised personnel. The results will be presented to academic and lay audiences via national/international conferences, publications in peer-reviewed journals, social media and through an official website created to engage pwMS, caregivers, clinicians and researchers.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883553 | PMC |
| http://dx.doi.org/10.1136/bmjopen-2024-095357 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients.
Diagnostics (Basel)
February 2025
Department of Maternal Infantile and Urological Sciences, Sapienza University, 00161 Rome, Italy.
: Crisponi/cold-induced sweating syndrome 1 (CISS1/CISS, MIM#272430) is a genetic disorder due to biallelic variants in (MIM*604237). The related phenotype is mainly characterized by abnormal thermoregulation and sweating, facial muscle contractions in response to tactile and crying-inducing stimuli at an early age, skeletal anomalies (camptodactyly of the hands, scoliosis), and craniofacial dysmorphisms, comprising full cheeks, micrognathia, high and narrow palate, low-set ears, and a depressed nasal bridge. The condition is associated with high lethality during the neonatal period and can benefit from timely symptomatic therapy.
View Article and Find Full Text PDFClinico-Pathological Study of Symptomatic Hyperparathyroidism: Is it a Different Phenotype Expression of Hyperparathyroidism?
Indian J Otolaryngol Head Neck Surg
February 2025
Department of General Surgery, Amrita Institute of Medical Sciences, Amrita Hospitals, Kochi, Kerala India.
Despite the popularity of auto analyzers in urban areas of the country the incidence of asymptomatic hyperparathyroidism has not markedly increased and symptomatic diseases are regularly seen in all major institutions. The present single-institution analysis of proven hyperparathyroidism in the last 16 years was aimed at comparing the demographic, clinical, and pathological characteristics of symptomatic and asymptomatic primary hyperparathyroidism and comparing those with the asymptomatic diseases seen in developed countries. A retrospective chart review of 332 patients was done and 29 (8.
View Article and Find Full Text PDFThe impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.
J Neurol
March 2025
Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Background: Spinocerebellar ataxia type 10 (SCA10), due to an ATTCT repeat expansion in ATXN10, has variable expressivity and the role of presence (ATTCTint +) and absence (ATTCTint-) of interruptions in the repeat is not clear. We aimed to describe the relations between ATTCTint + and age at onset, seizures, and neurologic severity in ataxic and non-ataxic carriers from Brazil.
Methods: Family, age at onset (AO), and seizures data plus DNA were obtained from symptomatic carriers already diagnosed in Porto Alegre, Curitiba, and São Paulo, Brazil.
Endogenous TDP-43 mislocalization in a novel knock-in mouse model reveals DNA repair impairment, inflammation, and neuronal senescence.
Acta Neuropathol Commun
March 2025
Division of DNA Repair Research, Center for Neuroregeneration, Department of Neurosurgery, Houston Methodist Research Institute, Houston, TX, 77030, USA.
TDP-43 mislocalization and aggregation are key pathological features of amyotrophic lateral sclerosis (ALS)- and frontotemporal dementia (FTD). However, existing transgenic hTDP-43 WT or ∆NLS-overexpression animal models primarily focus on late-stage TDP-43 proteinopathy. To complement these models and to study the early-stage motor neuron-specific pathology during pre-symptomatic phases of disease progression, we generated a new endogenous knock-in (KI) mouse model using a combination of CRISPR/Cas9 and FLEX Cre-switch strategy for the conditional expression of a mislocalized Tdp-43∆NLS variant of mouse Tdp-43.
View Article and Find Full Text PDFLatent transition analysis of pain phenotypes in people at risk of knee osteoarthritis: The MOST cohort study.
Osteoarthritis Cartilage
March 2025
School of Rehabilitation Science, McMaster University, Hamilton, ON, Canada. Electronic address:
Objective: Pain phenotypes (PP) have been identified across different stages of knee osteoarthritis (KOA) and understanding the stability of PPs prior to the development of symptomatic KOA can help to inform preventative strategies. We aimed to identify PPs and their transitions in people without radiographic KOA and profile participant characteristics.
Design: Data from 5 - (T1), 7- (T2) and 12-year (T3) visits from the Multicenter Osteoarthritis Study (MOST) were used.
Want 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!