Cerebrospinal fluid biomarkers of neurodegeneration in patients with juvenile and classic myotonic dystrophy type 1. (3rd July 2013)

• Record Type: Journal Article
• Authors: Peric, S.; Mandic‐Stojmenovic, G.; Markovic, I.; Stefanova, E.; Ilic, V.; Parojcic, A.; Misirlic‐Dencic, S.; Ostojic, M.; Rakocevic‐Stojanovic, V.; Kostic, V.
• Is Part Of: European journal of neurology. Volume 21:Number 2(2014:Feb.)
• Page Start: 231
• Page End: 237
• Publication Date: 2013-07-03
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/ene.12237
• Languages: English
• ISSNs: 1351-5101

Abstract

<abstract abstract-type="main" id="ene12237-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ene12237-sec-0001" sec-type="section"> <title>Background and purpose</title> <p>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 (Aβ<sub>42</sub>) in patients with myotonic dystrophy type 1 (DM1), and their possible correlations with cognitive and behavioral manifestations in these patients.</p> </sec> <sec id="ene12237-sec-0002" sec-type="section"> <title>Methods</title> <p>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 Aβ<sub>42</sub>.</p> </sec> <sec id="ene12237-sec-0003" sec-type="section"> <title>Results</title> <p>The CSF level of Aβ<sub>42</sub> was at its lowest in patients with jDM1 and at its highest in controls (<italic>P </italic>< 0.05). A tendency of T‐tau and P‐tau to increase was greater in aDM1 patients than in jDM1 patients and controls (<italic>P</italic> > 0.05). In both jDM1 and aDM1 patients, significant correlations were found between Aβ<sub>42</sub> and T‐tau (rho = 0.81 and rho = 0.67, respectively, <italic>P </italic>< 0.01), as well as between Aβ<sub>42</sub> and P‐tau (rho = 0.87 and rho = 0.67, respectively, <italic>P </italic>< 0.01). The Aβ<sub>42</sub>/P‐tau ratio decreased with age in aDM1 patients (rho = −0.30, <italic>P </italic>< 0.05). Only the level of Aβ<sub>42</sub> in the CSF of jDM1 patients was correlated with the size of the CTG expansion (rho = −0.53, <italic>P </italic>< 0.05). Only a few correlations were observed between levels of biomarkers and neuropsychological testing.</p> </sec> <sec id="ene12237-sec-0004" sec-type="section"> <title>Conclusion</title> <p>The CSF level of Aβ<sub>42</sub> was decreased in patients with jDM1, whilst the Aβ<sub>42</sub>/P‐tau ratio was decreased in aDM1 patients. Positive correlations between Aβ<sub>42</sub>, T‐tau and P‐tau were observed in both forms of disease. Further studies with larger cohorts of DM1 patients are necessary.</p> </sec> </abstract>