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- Title
Cerebrospinal fluid biomarkers of neurodegeneration in patients with juvenile and classic myotonic dystrophy type 1.
- Authors
Peric, S.; Mandic‐Stojmenovic, G.; Markovic, I.; Stefanova, E.; Ilic, V.; Parojcic, A.; Misirlic‐Dencic, S.; Ostojic, M.; Rakocevic‐Stojanovic, V.; Kostic, V.
- Abstract
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. Methods Lumbar puncture was performed in 74 patients with DM1 [27 with the childhood/juvenile form (j DM1) and 47 with the adult form (a DM1) 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 j DM1 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 j DM1 and a DM1 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 a DM1 patients (rho = −0.30, P < 0.05). Only the level of Aβ42 in the CSF of j DM1 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 j DM1, whilst the Aβ42/ P-tau ratio was decreased in a DM1 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.
- Subjects
CEREBROSPINAL fluid; MYOTONIA atrophica; LUMBAR puncture; ORTHOPEDIC surgery; ENZYME-linked immunosorbent assay
- Publication
European Journal of Neurology, 2014, Vol 21, Issue 2, p231
- ISSN
1351-5101
- Publication type
Article
- DOI
10.1111/ene.12237