Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease

Neurology. 2005 Nov 22;65(10):1636-8. doi: 10.1212/01.wnl.0000184585.93864.4e.

Abstract

Neurofibrillary degeneration (NFD) occurs in the brains of patients with myotonic dystrophy (DM) type 1. The authors report a similar tau pathology in the CNS of a patient with DM2 and compare it to that of patients with DM1. A reduced expression of tau exon 2 and exon 3 epitopes is observed in both DM1 and DM2. This suggests a similar physiopathologic process that may contribute to common neurologic features in patients with DM.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Antibody Specificity / genetics
  • Brain / metabolism
  • Brain / pathology*
  • Brain / physiopathology
  • DNA Mutational Analysis
  • Epitopes / genetics
  • Epitopes / immunology
  • Exons / genetics
  • Female
  • Genetic Predisposition to Disease / genetics
  • Hippocampus / metabolism
  • Hippocampus / pathology
  • Hippocampus / physiopathology
  • Humans
  • Immunohistochemistry
  • Inclusion Bodies / pathology
  • Male
  • Middle Aged
  • Mutation / genetics
  • Myotonic Dystrophy / classification
  • Myotonic Dystrophy / diagnosis*
  • Myotonic Dystrophy / physiopathology
  • Myotonin-Protein Kinase
  • Neurofibrillary Tangles / genetics
  • Neurofibrillary Tangles / immunology
  • Neurofibrillary Tangles / pathology
  • Neurons / metabolism
  • Neurons / pathology*
  • Protein Serine-Threonine Kinases / genetics
  • RNA-Binding Proteins / genetics
  • Tauopathies / classification
  • Tauopathies / diagnosis*
  • Tauopathies / physiopathology
  • tau Proteins / genetics
  • tau Proteins / immunology
  • tau Proteins / metabolism*

Substances

  • CNBP protein, human
  • DMPK protein, human
  • Epitopes
  • RNA-Binding Proteins
  • tau Proteins
  • Myotonin-Protein Kinase
  • Protein Serine-Threonine Kinases