TNFRSF1A R92Q mutation in association with a multiple sclerosis-like demyelinating syndrome

Neurology. 2008 Mar 25;70(13 Pt 2):1155-6. doi: 10.1212/01.wnl.0000296279.98236.8a. Epub 2008 Feb 20.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amino Acid Substitution
  • Brain / metabolism
  • Brain / pathology*
  • Brain / physiopathology
  • Chemotaxis, Leukocyte / genetics
  • Chemotaxis, Leukocyte / immunology
  • Chromosome Disorders / genetics
  • Chromosome Disorders / pathology
  • Chromosome Disorders / physiopathology
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Genes, Dominant / genetics*
  • Genetic Markers / genetics
  • Genetic Markers / immunology
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Hereditary Central Nervous System Demyelinating Diseases / genetics*
  • Hereditary Central Nervous System Demyelinating Diseases / pathology*
  • Hereditary Central Nervous System Demyelinating Diseases / physiopathology
  • Humans
  • Leukocytes / pathology
  • Magnetic Resonance Imaging
  • Multiple Sclerosis / diagnosis
  • Mutation / genetics
  • Receptors, Tumor Necrosis Factor, Type I / genetics*
  • Syndrome
  • Tumor Necrosis Factor-alpha / immunology

Substances

  • Genetic Markers
  • Receptors, Tumor Necrosis Factor, Type I
  • TNFRSF1A protein, human
  • Tumor Necrosis Factor-alpha