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    Ann Neurol. 2009 Apr;65(4):470-3.

    TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.

    Benajiba L, Le Ber I, Camuzat A, Lacoste M, Thomas-Anterion C, Couratier P, Legallic S, Salachas F, Hannequin D, Decousus M, Lacomblez L, Guedj E, Golfier V, Camu W, Dubois B, Campion D, Meininger V, Brice A; French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron Disease.

    Collaborators (25)

    Brice A, Blanc F, Clerget-Darpoux F, Corcia P, Didic M, Desnuelle C, Dubois B, Duyckaerts C, Habert MO, Golfier V, Guedj E, Hannequin D, Lacomblez L, Le Ber I, Levy R, Meininger V, Michel BF, Pasquier F, Thomas-Anterion C, Puel M, Salachas F, Sellal F, Vercelletto M, Verpillat P, Camu W.

    Source

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

    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.

    PMID:
    19350673
    [PubMed - indexed for MEDLINE]

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