TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

Ann Neurol. 2009 Apr;65(4):470-3. doi: 10.1002/ana.21612.


TDP-43 (TAR-DNA binding protein) aggregates in neuronal inclusions in motoneuron disease (MND), as well as in frontotemporal lobar degeneration (FTLD) and FTLD associated with MND (FTLD-MND). Mutations in TARDBP gene, coding for TDP-43, were found in patients with pure MND. We now describe TARDBP mutations in two patients with FTLD-MND, presenting with a behavioral variant of FTLD and semantic dementia, suggesting that TDP-43 may also have a direct pathogenic role in FTLD disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Dementia / complications*
  • Dementia / genetics*
  • Family Health
  • Female
  • Humans
  • Male
  • Middle Aged
  • Motor Neuron Disease / complications*
  • Motor Neuron Disease / genetics*
  • Mutation / genetics*
  • Phenylalanine / genetics


  • DNA-Binding Proteins
  • Phenylalanine