TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.

Lina Benajiba , Isabelle Le Ber , Agnès Camuzat , Mathieu Lacoste , Catherine Thomas-Anterion , Philippe Couratier (1, 2) , Solenn Legallic , François Salachas , Didier Hannequin , Marielle Decousus , Lucette Lacomblez , Eric Guedj , Véronique Golfier , William Camu , Bruno Dubois , Dominique Campion , Vincent Meininger , Alexis Brice

1 NETEC - Neuroépidémiologie Tropicale et Comparée
2 Service de Neurologie [CHU Limoges]

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.

Domaines: Santé publique et épidémiologie

Lina Benajiba, Isabelle Le Ber, Agnès Camuzat, Mathieu Lacoste, Catherine Thomas-Anterion, et al.. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.. Annals of Neurology, 2009, 65 (4), pp.470-3. ⟨10.1002/ana.21612⟩. ⟨hal-00407819⟩