See editorial by Meola on page 183.
Cerebrospinal fluid biomarkers of neurodegeneration in patients with juvenile and classic myotonic dystrophy type 1
Version of Record online: 3 JUL 2013
© 2013 The Author(s) European Journal of Neurology © 2013 EFNS
European Journal of Neurology
Volume 21, Issue 2, pages 231–237, February 2014
How to Cite
Peric, S., Mandic-Stojmenovic, G., Markovic, I., Stefanova, E., Ilic, V., Parojcic, A., Misirlic-Dencic, S., Ostojic, M., Rakocevic-Stojanovic, V. and Kostic, V. (2014), Cerebrospinal fluid biomarkers of neurodegeneration in patients with juvenile and classic myotonic dystrophy type 1. European Journal of Neurology, 21: 231–237. doi: 10.1111/ene.12237
- Issue online: 13 JAN 2014
- Version of Record online: 3 JUL 2013
- Manuscript Accepted: 5 JUN 2013
- Manuscript Received: 7 APR 2013
- Ministry of Education and Science. Grant Numbers: 175083, 175090
- amyloid beta protein;
- cerebrospinal fluid;
- myotonic dystrophy type 1;
- tau protein
Background 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.
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.
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.
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.