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TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

Lina Benajiba1, Isabelle Le Ber, Agnès Camuzat

  • 1Institut National de la Santé et de la Recherche Médicale UMRS975 CRicm (formerly INSERM UMR_S679), F-75013, Paris, France.

Annals of Neurology
|April 8, 2009
PubMed

Insights

TAR-DNA binding protein (TDP-43) aggregates in neuronal inclusions in motoneuron disease (MND) and frontotemporal lobar degeneration (FTLD). This study identifies TARDBP gene mutations in FTLD-MND patients, suggesting TDP-43

Area of Science:

  • Neuroscience
  • Genetics
  • Neuropathology

Background:

  • TAR-DNA binding protein (TDP-43) is implicated in neurodegenerative diseases.
  • TDP-43 aggregates are found in neuronal inclusions in motoneuron disease (MND) and frontotemporal lobar degeneration (FTLD).
  • Mutations in the TARDBP gene, encoding TDP-43, have been identified in patients with pure MND.

Purpose of the Study:

  • To investigate the role of TARDBP mutations in patients presenting with FTLD-MND.
  • To explore the potential direct pathogenic role of TDP-43 in FTLD disorders.

Main Methods:

  • Genetic analysis of the TARDBP gene.
  • Clinical and pathological assessment of patients with FTLD-MND.

Main Results:

  • TARDBP gene mutations were identified in two patients with FTLD-MND.
  • These patients presented with a behavioral variant of FTLD and semantic dementia.
  • Findings suggest TDP-43's direct involvement in the pathogenesis of FTLD.

Conclusions:

  • TDP-43 plays a direct pathogenic role in FTLD disorders, particularly FTLD-MND.
  • Genetic mutations in TARDBP are associated with FTLD-MND phenotypes.
  • Further research into TDP-43's role in FTLD is warranted.

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