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Cerebrospinal Fluid Biomarkers in DM1: a 14-year Follow Up Study.

Conference contribution
Authors Magnus Rudenholm
Stefan Winblad
Henrik Zetterberg
Radu Constantinescu
Christopher Lindberg
Published in IDMC-12, Göteborg 2019, Konferensprogram
Publication year 2019
Published at Institute of Neuroscience and Physiology
Institute of Neuroscience and Physiology, Department of Physiology
Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Department of Psychology
Language en
Keywords Myotonic dystrophy type 1, longitudinal, csf, cognition
Subject categories Health Sciences


Introduction: DM1 affects cognition, but worsening over time and relation to cerebrospinal fluid (CSF) biomarkers is yet unclear. The aim of this study was to investigate this further. Methods: CSF levels of beta amyloid 1-42 (Aβ42), total- and phosphorylated tau protein (t-tau/p-tau), neurofilament light chain (NFL), glial fibrillary acid protein (GFAP) and cognitive performance on neuropsychological tests were measured in 17 patients with DM1 at baseline 2004 and follow up 2018. Results: CSF-Aβ42 was decreased in 1 patient (5.9%) at follow up compared to 6 patients (35%) at baseline (p <0.001). Remaining biomarkers were without change or pathology. Patients scored worse on cognitive measures at follow-up, unrelated to CSF biomarkers. Conclusions: Cognitive decline was observed but could not be related to disturbance in CSF-biomarkers. This suggesting a neurodegenerative process not intense enough to be observable using the employed biomarkers.

Page Manager: Webmaster|Last update: 9/11/2012

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