Cerebrospinal fluid proteomic profiling reveals potential biomarkers and altered pathways in myotonic dystrophy type 1
This first exploratory CSF proteomic analysis in DM1 identified dysregulated protein networks that may underlie CNS dysfunction in this multisystemic disease. These findings provide novel insights into DM1 pathophysiology and support the potential of CSF proteomic signatures as candidate diagnostic tools, indicators of disease activity, and measures of therapeutic response, pending validation in larger, independent cohorts.
Authors
- Eric T. Wang (ORCID: https://orcid.org/0000-0003-2655-5525)
- Tina Duong (ORCID: https://orcid.org/0000-0003-3177-4722)
- Jacinda B. Sampson (ORCID: https://orcid.org/0000-0002-4991-6496)
- Katharine A. Hagerman (ORCID: https://orcid.org/0000-0002-1790-8221)
- John Day (ORCID: https://orcid.org/0000-0002-0086-9529)
- Tahereh Kamali (ORCID: https://orcid.org/0000-0002-7455-9013)
- Marwa Zafarullah (ORCID: https://orcid.org/0000-0003-1856-0535)
- Lisa Ghiglieri
Institutions
- University of Florida (US)
- Stanford Health Care (US)
- Stanford Medicine (US)
- Florida College (US)
Publication Details
- Journal
- Frontiers in Neuroscience
- Published
- 2025-11-26
- DOI
- https://doi.org/10.3389/fnins.2025.1709678
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00