Cerebrospinal fluid biomarkers of neurodegeneration in patients with juvenile and classic myotonic dystrophy type 1
| Autor: | Vladimir S. Kostic, Vera Ilic, V. Rakocevic Stojanovic, Aleksandra Parojcic, Ivanka Markovic, Elka Stefanova, Miodrag Ostojic, S. Misirlic Dencic, G. Mandic Stojmenovic, Stojan Peric |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Tau protein tau Proteins Neuropsychological Tests Gastroenterology Myotonic dystrophy 03 medical and health sciences Young Adult 0302 clinical medicine Cerebrospinal fluid Internal medicine mental disorders medicine Humans Myotonic Dystrophy Juvenile In patient 030212 general & internal medicine Phosphorylation Amyloid beta-Peptides medicine.diagnostic_test biology Lumbar puncture business.industry Neurodegeneration Middle Aged medicine.disease Peptide Fragments 3. Good health Cross-Sectional Studies Endocrinology Neurology Nerve Degeneration Orthopedic surgery biology.protein Female Neurology (clinical) business 030217 neurology & neurosurgery Biomarkers |
| Zdroj: | European Journal of Neurology. 21:231-237 |
| ISSN: | 1351-5101 |
| DOI: | 10.1111/ene.12237 |
| Popis: | 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 (P0.05). A tendency of T-tau and P-tau to increase was greater in aDM1 patients than in jDM1 patients and controls (P0.05). In both jDM1 and aDM1 patients, significant correlations were found between Aβ42 and T-tau (rho = 0.81 and rho = 0.67, respectively, P0.01), as well as between Aβ42 and P-tau (rho = 0.87 and rho = 0.67, respectively, P0.01). The Aβ42/P-tau ratio decreased with age in aDM1 patients (rho = -0.30, P0.05). Only the level of Aβ42 in the CSF of jDM1 patients was correlated with the size of the CTG expansion (rho = -0.53, P0.05). 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. |
| Databáze: | OpenAIRE |
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