title: Cerebrospinal fluid tau and amyloid beta42 protein in patients with myotonic dystrophy type 1.
abstract: BACKGROUND
  Myotonic dystrophy type 1 (DM1) is associated with brain morphology changes including neurofibrillary degeneration.
  
  
  METHODS
  We have examined cerebrospinal fluid (CSF) markers indicative of neuronal degeneration and amyloidogenesis; total tau (T-tau), phosphorylated tau (P-tau) and beta amyloid 1-42 (Abeta42), in 32 patients with DM1.
  
  
  CONCLUSIONS
  Associations between CSF markers and CTG repeat expansion size, brain MRI findings, and neuropsychological test results were analysed. As compared with matched controls Abeta42 was significantly decreased (P = 0.001), whilst levels of T-tau were increased (P < 0.001). No difference was found between measures considering P-tau levels. At present the clinical implications of these findings is unclear, because of an overlap between CSF values of DM1 patients and healthy controls, but also regarding modest associations between CSF markers and other measures. However notably, the Tau pathology, as seen in DM1, differs from Alzheimers disease, considering the lack of increased levels of P-tau.
authors.affiliation: Neuromuscular Centre, Department of Neurology, Sahlgrenska University Hospital, Göteborg, Sweden.
authors.forename: S
authors.initials: S
authors.lastname: Winblad
authors.forename: J E
authors.initials: JE
authors.lastname: Månsson
authors.forename: K
authors.initials: K
authors.lastname: Blennow
authors.forename: C
authors.initials: C
authors.lastname: Jensen
authors.forename: L
authors.initials: L
authors.lastname: Samuelsson
authors.forename: C
authors.initials: C
authors.lastname: Lindberg
mesh_terms: D000328:Adult; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid*; D015415:Biomarkers / Q000134:cerebrospinal fluid; D001921:Brain / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000134:cerebrospinal fluid* / Q000473:pathology; D009483:Neuropsychological Tests; D010446:Peptide Fragments / Q000134:cerebrospinal fluid*; D010766:Phosphorylation; D011499:Protein Processing, Post-Translational; D016875:tau Proteins / Q000134:cerebrospinal fluid* / Q000737:chemistry
chemical_list: D016229:Amyloid beta-Peptides; D015415:Biomarkers; C054369:MAPT protein, human; D010446:Peptide Fragments; C075222:amyloid beta-protein (1-42); D016875:tau Proteins