Article
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.
Annals of neurology - 1 Apr 2009
Benajiba Lina, Le Ber Isabelle, Camuzat Agnès, Lacoste Mathieu, Thomas-Anterion Catherine, Couratier Philippe, Legallic Solenn, Salachas François, Hannequin Didier, Decousus Marielle, Lacomblez Lucette, Guedj Eric, Golfier Véronique, Camu William, Dubois Bruno, Campion Dominique, Meininger Vincent, Brice Alexis
Abstract excerpt
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,...
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