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Background: Clonal hematopoiesis of indeterminate potential (CHIP) is associated with cardiovascular diseases and other disorders, possibly via inflammation. Recent research suggests a connection of CHIP with neurodegenerative disorders.
Objective: We aimed to investigate the association between multiple system atrophy (MSA) and CHIP.
Methods: We included 100 patients with MSA and 4457 controls. Targeted sequencing of peripheral blood DNA samples was performed, focusing on a panel of 25 genes commonly.
Linked To Chip: The prevalence of CHIP in patients with MSA was assessed against controls at variant allele frequency (VAF) thresholds of 1.5 % and 2.0 %.
Results: DNMT3A mutation rates were significantly higher in patients with MSA, with a VAF of 1.5 %, which remained significant after adjusting for age and sex (adjusted odds ratio, 1.848; 95 % CI, 1.024-3.335; p = 0.0416).
Conclusion: Our results suggest an association between DNMT3A mutations and MSA.
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http://dx.doi.org/10.1016/j.parkreldis.2024.107145 | DOI Listing |
Neurodegener Dis Manag
September 2025
RWE Statistics, KMK Consulting, Inc, North Tower, Morristown, NJ, USA.
Background: Multiple system atrophy (MSA) is a progressive neurodegenerative disorder with diverse symptoms that complicate diagnosis. We aimed to characterize MSA-related symptoms, medications, and healthcare resource utilization (HCRU).
Research Design And Methods: This retrospective cohort study used a large US claims database.
Ann Rheum Dis
September 2025
Department of Pediatrics, Division of Rheumatology, University of Michigan, Ann Arbor, MI, USA.
Objectives: Juvenile dermatomyositis (JDM) is a heterogeneous autoimmune condition needing targeted treatment approaches and improved understanding of molecular mechanisms driving clinical phenotypes. We utilised exploratory proteomics from a longitudinal North American cohort of patients with new-onset JDM to identify biological pathways at disease onset and follow-up, tissue-specific disease activity, and myositis-specific autoantibody (MSA) status.
Methods: We measured 3072 plasma proteins (Olink panel) in 56 patients with JDM within 12 weeks of starting treatment (from the Childhood Arthritis and Rheumatology Research Alliance Registry and 3 additional sites) and 8 paediatric controls.
Cerebellum
September 2025
Department of Neurology, Faculty of Medicine, Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Multiple system atrophy (MSA) is a progressive, adult-onset neurodegenerative disorder involving autonomic failure, cerebellar ataxia, and parkinsonism. Patients often require invasive interventions, such as gastrostomy or tracheostomy, and sudden death is common. This study aimed to elucidate patterns of invasive treatment and identify risk factors for tracheostomy or sudden death within 5 years of onset.
View Article and Find Full Text PDFJ Neurol
September 2025
Department of Neurology, Seoul National University Hospital and Seoul National University College of Medicine, 101 Daehakro Jongno-gu, Seoul, 03080, Republic of Korea.
Speech disorders differ between Parkinson's disease (PD) and multiple system atrophy (MSA), but studies focusing on group differences based on syllables or including cerebellar ataxia (CA) are lacking until now. This cross-sectional study aimed to analyze syllable-based speech characteristics in patients with PD, MSA, and CA, as well as healthy controls, to determine their diagnostic utility. Speech samples were collected from 68 PD, 52 MSA, 23 CA, and 70 healthy controls.
View Article and Find Full Text PDFJ Wound Care
September 2025
Department of Vascular and Endovascular Surgery, University Hospital of Duesseldorf (UKD), Heinrich-Heine University Duesseldorf (HHU), Duesseldorf, Germany.
Objective: A new topical desiccating agent (TDA; DEBRICHEM, DEBx Medical BV, the Netherlands) based on methanesulfonic acid (MSA) and dimethyl sulfoxide (DMSO) has proved to be an effective biofilm- and necrosis-removing chemical debridement option. However, its application can be temporarily accompanied by sharp pain perception, depending on the individual patient. This study aimed to assess application-associated pain and two strategies to manage this.
View Article and Find Full Text PDF