Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS

Intern Med. 2010;49(12):1209-12. doi: 10.2169/internalmedicine.49.3300. Epub 2010 Jun 15.

Abstract

We report a 52-year-old Japanese man showing both upper and lower motor neuron signs with familial amyotrophic lateral sclerosis (ALS). Analysis of the TAR DNA-binding protein of 43 kDa (TDP-43) gene (TARDBP) revealed a glycine-to-serine substitution at position 298 (G298S). Cerebrospinal fluid (CSF) level of total tau protein (CSF-tau) of our patient was found to be highly elevated compared with those of sporadic ALS cases and controls. The elevated CSF-tau level might be related to the damage of neurons exhibiting a large number of TDP-43 inclusions in familial ALS with this mutation.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Amino Acid Substitution / genetics*
  • Amyotrophic Lateral Sclerosis / cerebrospinal fluid*
  • Amyotrophic Lateral Sclerosis / diagnosis
  • Amyotrophic Lateral Sclerosis / genetics*
  • DNA-Binding Proteins / cerebrospinal fluid*
  • DNA-Binding Proteins / genetics*
  • Glycine / genetics
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Pedigree
  • Serine / genetics

Substances

  • DNA-Binding Proteins
  • Serine
  • Glycine