title: Cerebrospinal fluid biomarkers of neurodegeneration in patients with juvenile and classic myotonic dystrophy type 1.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Clinical Center of Serbia, Neurology Clinic, Belgrade, Serbia.
authors.forename: S
authors.initials: S
authors.lastname: Peric
authors.forename: G
authors.initials: G
authors.lastname: Mandic-Stojmenovic
authors.forename: I
authors.initials: I
authors.lastname: Markovic
authors.forename: E
authors.initials: E
authors.lastname: Stefanova
authors.forename: V
authors.initials: V
authors.lastname: Ilic
authors.forename: A
authors.initials: A
authors.lastname: Parojcic
authors.forename: S
authors.initials: S
authors.lastname: Misirlic-Dencic
authors.forename: M
authors.initials: M
authors.lastname: Ostojic
authors.forename: V
authors.initials: V
authors.lastname: Rakocevic-Stojanovic
authors.forename: V
authors.initials: V
authors.lastname: Kostic
mesh_terms: D000328:Adult; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid*; D015415:Biomarkers / Q000134:cerebrospinal fluid; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000134:cerebrospinal fluid* / Q000523:psychology; D009410:Nerve Degeneration / Q000134:cerebrospinal fluid* / Q000523:psychology; D009483:Neuropsychological Tests; D010446:Peptide Fragments / Q000134:cerebrospinal fluid*; D010766:Phosphorylation; D055815:Young Adult; D016875:tau Proteins / Q000134:cerebrospinal fluid*
chemical_list: D016229:Amyloid beta-Peptides; D015415:Biomarkers; D010446:Peptide Fragments; C075222:amyloid beta-protein (1-42); D016875:tau Proteins
keywords: amyloid beta protein; cerebrospinal fluid; myotonic dystrophy type 1; tau protein