| Literature DB >> 19350673 |
Lina Benajiba1, Isabelle Le Ber, Agnès Camuzat, Mathieu Lacoste, Catherine Thomas-Anterion, Philippe Couratier, Solenn Legallic, François Salachas, Didier Hannequin, Marielle Decousus, Lucette Lacomblez, Eric Guedj, Véronique Golfier, William Camu, Bruno Dubois, Dominique Campion, Vincent Meininger, Alexis Brice.
Abstract
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.Entities:
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Year: 2009 PMID： 19350673 DOI： 10.1002/ana.21612
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422