Peric, S. (35750481700)S. (35750481700)PericMandic-Stojmenovic, G. (55780903300)G. (55780903300)Mandic-StojmenovicMarkovic, I. (7004033826)I. (7004033826)MarkovicStefanova, E. (7004567022)E. (7004567022)StefanovaIlic, V. (56396353100)V. (56396353100)IlicParojcic, A. (55266544000)A. (55266544000)ParojcicMisirlic-Dencic, S. (13405088600)S. (13405088600)Misirlic-DencicOstojic, M. (26027597700)M. (26027597700)OstojicRakocevic-Stojanovic, V. (6603893359)V. (6603893359)Rakocevic-StojanovicKostic, V. (57189017751)V. (57189017751)Kostic2025-06-122025-06-122014https://doi.org/10.1111/ene.12237https://www.scopus.com/inward/record.uri?eid=2-s2.0-84892483005&doi=10.1111%2fene.12237&partnerID=40&md5=a4f50f85dd8b34d7623907d7adf60c1ehttps://remedy.med.bg.ac.rs/handle/123456789/8556Background and purpose: The aim of the present study was to analyze cerebrospinal fluid (CSF) levels of total tau (T-tau), phosphorylated tau (P-tau) and the 42-amino-acid form of β-amyloid (Aβ42) in patients with myotonic dystrophy type 1 (DM1), and their possible correlations with cognitive and behavioral manifestations in these patients. Methods: Lumbar puncture was performed in 74 patients with DM1 [27 with the childhood/juvenile form (jDM1) and 47 with the adult form (aDM1) of the disease] and 26 control subjects who were subjected to orthopedic surgery. Sandwich ELISA was used for measuring the levels of T-tau, P-tau and Aβ42. Results: The CSF level of Aβ42 was at its lowest in patients with jDM1 and at its highest in controls (P < 0.05). A tendency of T-tau and P-tau to increase was greater in aDM1 patients than in jDM1 patients and controls (P > 0.05). In both jDM1 and aDM1 patients, significant correlations were found between Aβ42 and T-tau (rho = 0.81 and rho = 0.67, respectively, P < 0.01), as well as between Aβ42 and P-tau (rho = 0.87 and rho = 0.67, respectively, P < 0.01). The Aβ42/P-tau ratio decreased with age in aDM1 patients (rho = -0.30, P < 0.05). Only the level of Aβ42 in the CSF of jDM1 patients was correlated with the size of the CTG expansion (rho = -0.53, P < 0.05). Only a few correlations were observed between levels of biomarkers and neuropsychological testing. Conclusion: The CSF level of Aβ42 was decreased in patients with jDM1, whilst the Aβ42/P-tau ratio was decreased in aDM1 patients. Positive correlations between Aβ42, T-tau and P-tau were observed in both forms of disease. Further studies with larger cohorts of DM1 patients are necessary. © 2013 The Author(s) European Journal of Neurology © 2013 EFNS.Amyloid beta proteinCerebrospinal fluidMyotonic dystrophy type 1Tau protein